Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
13-33635463-T-C | KL | c.2247T>C | p.Ala749Ala | Synonymous | 4/5 | - |
3-46000037-C-A | FYCO1 | c.3662G>T | p.Arg1221Leu | Missense | 13/18 | - |
11-85698207-A-C | PICALM | c.1408+3086T>G | - | IntronicSNV | - | 13/19 |
19-45398716-A-C | TOMM40 | c.643+1393A>C | - | IntronicSNV | - | 6/9 |
6-109770999-G-C | MICAL1 | c.1308-13C>G | - | IntronicSNV | - | 9/24 |
15-51507968-G-A | CYP19A1 | c.790C>T | p.Arg264Cys | Missense | 7/10 | - |
19-9951916-C-T | PIN1 | c.271+2592C>T | - | IntronicSNV | - | 2/3 |
12-14117043-A-T | GRIN2B | c.-19+15819T>A | - | intron_variant | - | 1/12 |
10-75237966-C-T | PPP3CB | c.411+291G>A | - | IntronicSNV | - | 3/13 |
10-52104565-G-A | SGMS1 | c.1-691C>T | - | IntronicSNV | - | 3/10 |
1-207782931-A-G | CR1 | c.4843A>G | p.Ile1615Val | Missense | 29/39 | - |
2-169580370-C-T | CERS6 | c.845+5882C>T | - | IntronicSNV | - | 8/9 |
9-99056209-A-G | HSD17B3 | c.201+4489T>C | - | IntronicSNV | - | 2/10 |
9-87334068-C-T | NTRK2 | c.584-4420C>T | - | IntronicSNV | - | 8/14 |
17-74380786-C-T | SPHK1 | c.-296C>T | - | 5_prime_UTR_variant | 1/6 | - |
17-61573761-T-G | ACE | c.3387T>G | p.Phe1129Leu | Missense | 23/25 | - |
10-5149144-A-T | AKR1C3 | c.930-509A>T | - | IntronicSNV | - | 8/8 |
16-72088461-A-G | HP | c.1-91A>G | - | IntergenicSNV | 1/7 | - |
4-164268914-C-T | NPY5R | c.-10+240C>T | - | intron_variant | - | 3/3 |
19-45395266-G-A | TOMM40 | c.274+320G>A | - | IntronicSNV | - | 2/9 |
7-22767433-A-G | IL6 | c.210+180A>G | - | IntronicSNV | - | 2/4 |
1-156813650-T-C | INSRR | c.2843+317A>G | - | IntronicSNV | - | 15/21 |
10-52088004-C-T | SGMS1 | c.624-922G>A | - | IntronicSNV | - | 7/10 |
3-46003736-G-A | FYCO1 | c.3418C>T | p.Arg1140Trp | Missense | 11/18 | - |
4-23815662-C-T | PPARGC1A | c.1444G>A | p.Gly482Ser | Missense | 8/13 | - |
7-143101984-C-T | EPHA1 | c.150+2720G>A | - | IntronicSNV | - | 2/17 |
22-46570232-A-G | PPARA | c.-43+22359A>G | - | intron_variant | - | 2/7 |
3-133492471-G-A | TF | c.1688-1806G>A | - | IntronicSNV | - | 14/16 |
19-8326866-C-T | CERS4 | c.1058C>T | p.Ala353Val | Missense | 12/12 | - |
19-8326866-C-A | CERS4 | c.1058C>A | p.Ala353Glu | Missense | 12/12 | - |
19-8326866-C-G | CERS4 | c.1058C>G | p.Ala353Gly | Missense | 12/12 | - |
5-54742941-G-A | PLPP1 | c.495-5205C>T | - | IntronicSNV | - | 3/5 |
19-45373565-G-A | NECTIN2 | c.479-1545G>A | - | IntronicSNV | - | 2/5 |
15-58824641-A-G | LIPC | c.89-5891A>G | - | IntronicSNV | - | 1/8 |
19-49943948-G-C | SLC17A7 | c.62+627C>G | - | IntronicSNV | - | 1/11 |
10-104596924-C-A | CYP17A1 | c.195G>T | p.Ser65Ser | Synonymous | 1/8 | - |
13-33592777-T-C | KL | c.819+1380T>C | - | IntronicSNV | - | 1/4 |
9-6247430-C-T | IL33 | c.92-3044C>T | - | IntronicSNV | - | 2/7 |
9-6247430-C-G | IL33 | c.92-3044C>G | - | IntronicSNV | - | 2/7 |
8-27458294-T-G | CLU | c.935-768A>C | - | IntronicSNV | - | 6/8 |
10-105214932-T-C | CALHM1 | c.*87A>G | - | 3-UTRSNV | 2/2 | - |
1-119963454-T-A | HSD3B2 | c.308-978T>A | - | IntronicSNV | - | 3/3 |
1-119963454-T-C | HSD3B2 | c.308-978T>C | - | IntronicSNV | - | 3/3 |
1-120051446-G-A | HSD3B1 | c.145+1202G>A | - | IntronicSNV | - | 2/3 |
1-120051446-G-C | HSD3B1 | c.145+1202G>C | - | IntronicSNV | - | 2/3 |
19-45405062-A-G | TOMM40 | c.946+495A>G | - | IntronicSNV | - | 9/9 |
8-27458294-T-A | CLU | c.935-768A>T | - | IntronicSNV | - | 6/8 |
1-154551032-C-T | CHRNB2 | c.*2624C>T | - | 3-UTRSNV | 6/6 | - |
6-47469136-G-A | CD2AP | c.5-1880G>A | - | IntronicSNV | - | 1/17 |
5-6643847-G-C | SRD5A1 | c.294-8108G>C | - | IntronicSNV | - | 1/4 |
3-46025941-T-G | FYCO1 | c.55+407A>C | - | IntronicSNV | - | 2/17 |
3-46025941-T-C | FYCO1 | c.55+407A>G | - | IntronicSNV | - | 2/17 |
19-51741599-C-A | CD33 | c.925-1174C>A | - | IntronicSNV | - | 6/6 |
11-59950417-A-G | MS4A6A | c.70+192T>C | - | IntronicSNV | - | 2/6 |
17-42079565-C-G | PYY | c.-463+2194G>C | - | intron_variant | - | 1/6 |
17-42079565-C-A | PYY | c.-463+2194G>T | - | intron_variant | - | 1/6 |
1-206946407-T-G | IL19 | c.-35+1984T>G | - | intron_variant | - | 1/6 |
10-52070824-C-G | SGMS1 | c.895+198G>C | - | IntronicSNV | - | 9/10 |
10-75204737-T-G | PPP3CB | c.1269-157A>C | - | IntronicSNV | - | 11/13 |
10-52135215-G-A | SGMS1 | c.1-31341C>T | - | IntronicSNV | - | 6/10 |
19-45351746-A-G | NECTIN2 | c.88+1876A>G | - | IntronicSNV | - | 1/5 |
9-87425973-G-A | NTRK2 | c.*479G>A | - | 3-UTRSNV | 15/15 | - |
8-143954223-C-A | CYP11B1 | c.*1566G>T | - | 3-UTRSNV | 9/9 | - |
9-114680171-T-G | UGCG | c.240+3145T>G | - | IntronicSNV | - | 2/8 |
17-47578735-C-T | NGFR | c.67-690C>T | - | IntronicSNV | - | 1/5 |
3-12370737-A-G | PPARG | c.-3+41218A>G | - | intron_variant | - | 1/6 |
3-45960851-C-T | FYCO1 | c.*2406G>A | - | 3-UTRSNV | 18/18 | - |
1-120057158-C-T | HSD3B1 | c.1012C>T | p.Leu338Leu | Synonymous | 4/4 | - |
7-100219929-G-A | TFR2 | c.2137-1180C>T | - | IntronicSNV | - | 17/17 |
3-12421089-C-T | PPARG | c.1-116C>T | - | IntronicSNV | - | 1/6 |
3-133468139-G-A | TF | c.216+711G>A | - | IntronicSNV | - | 2/16 |
4-23869454-C-T | PPARGC1A | c.234+16921G>A | - | IntronicSNV | - | 2/12 |
11-224088-G-A | SIRT3 | c.533C>T | p.Thr178Ile | Missense | 5/7 | - |
11-224088-G-T | SIRT3 | c.533C>A | p.Thr178Asn | Missense | 5/7 | - |
1-115837709-A-G | NGF | c.-136-1338T>C | - | intron_variant | - | 1/2 |
3-12434608-G-A | PPARG | c.535+357G>A | - | IntronicSNV | - | 4/6 |
4-156136027-C-T | NPY2R | c.936C>T | p.Ile312Ile | Synonymous | 2/2 | - |
5-6632320-C-A | NSUN2 | c.255-230G>T | - | IntronicSNV | - | 2/18 |
11-36510547-G-A | TRAF6 | c.*841C>T | - | 3-UTRSNV | 8/8 | - |
22-42191636-A-G | MEI1 | c.3666+90A>G | - | IntronicSNV | - | 29/30 |
11-121448254-G-A | SORL1 | c.3580+145G>A | - | IntronicSNV | - | 25/47 |
5-179252537-A-G | SQSTM1 | c.502+311A>G | - | IntronicSNV | - | 6/8 |
10-104597152-A-T | CYP17A1 | c.1-34T>A | - | 5-UTRSNV | 1/8 | - |
10-104597152-A-G | CYP17A1 | c.1-34T>C | - | 5-UTRSNV | 1/8 | - |
12-57594955-G-C | LRP1 | c.10345+19G>C | - | IntronicSNV | - | 65/88 |
12-57594955-G-A | LRP1 | c.10345+19G>A | - | IntronicSNV | - | 65/88 |
17-42427732-G-A | GRN | c.462+24G>A | - | IntronicSNV | - | 5/12 |
17-44101563-T-C | MAPT | c.*26T>C | - | 3-UTRSNV | 14/14 | - |
8-143957979-A-T | CYP11B1 | c.799+119T>A | - | IntronicSNV | - | 4/8 |
8-143957979-A-C | CYP11B1 | c.799+119T>G | - | IntronicSNV | - | 4/8 |
11-36251046-G-C | LDLRAD3 | c.*99G>C | - | 3-UTRSNV | 6/6 | - |
11-36251046-G-A | LDLRAD3 | c.*99G>A | - | 3-UTRSNV | 6/6 | - |
1-11857951-T-A | MTHFR | c.587-1495A>T | - | IntronicSNV | - | 4/11 |
10-5149144-A-G | AKR1C3 | c.930-509A>G | - | IntronicSNV | - | 8/8 |
17-42090587-G-C | TMEM101 | c.319-64C>G | - | IntronicSNV | - | 2/3 |
6-28268497-C-T | PGBD1 | c.870-4C>T | - | IntronicSNV | - | 6/6 |
12-57602815-C-T | LRP1 | c.12146-51C>T | - | IntronicSNV | - | 78/88 |
1-11190646-G-A | MTOR | c.5553C>T | p.Ser1851Ser | Synonymous | 39/58 | - |
8-143954769-G-A | CYP11B1 | c.*1020C>T | - | 3-UTRSNV | 9/9 | - |
22-46638540-A-G | PPARA | c.*7263A>G | - | 3-UTRSNV | 8/8 | - |
16-68387496-A-C | PRMT7 | c.1650+27A>C | - | IntronicSNV | - | 16/18 |
16-72088776-C-T | HP | c.5+220C>T | - | IntronicSNV | - | 1/6 |
10-94222624-C-G | IDE | c.2761+864G>C | - | IntronicSNV | - | 21/24 |
10-94222624-C-T | IDE | c.2761+864G>A | - | IntronicSNV | - | 21/24 |
10-104592249-A-C | CYP17A1 | c.1139+19T>G | - | IntronicSNV | - | 6/7 |
6-109767803-A-T | MICAL1 | c.2304+96T>A | - | IntronicSNV | - | 18/24 |
15-74630623-T-C | CYP11A1 | c.1435-179A>G | - | IntronicSNV | - | 8/8 |
4-23890782-G-A | PPARGC1A | c.54+745C>T | - | IntronicSNV | - | 1/12 |
4-156135676-C-T | NPY2R | c.585C>T | p.Ile195Ile | Synonymous | 2/2 | - |
14-64926097-T-C | MTHFD1 | c.*5-380T>C | - | intron_variant | - | 27/27 |
19-10271141-A-C | DNMT1 | c.961-47T>G | - | IntronicSNV | - | 12/39 |
19-1047161-A-G | ABCA7 | c.1851A>G | p.Gly617Gly | Synonymous | 15/47 | - |
14-88414211-G-A | GALC | c.1350C>T | p.Ser450Ser | Synonymous | 13/17 | - |
22-46638540-A-C | PPARA | c.*7263A>C | - | 3-UTRSNV | 8/8 | - |
2-25469502-C-T | DNMT3A | c.1266G>A | p.Leu422Leu | Synonymous | 10/23 | - |
1-11857951-T-C | MTHFR | c.587-1495A>G | - | IntronicSNV | - | 4/11 |
9-99061972-A-G | HSD17B3 | c.155-1228T>C | - | IntronicSNV | - | 1/10 |
10-5139685-G-A | AKR1C3 | c.312G>A | p.Lys104Lys | Synonymous | 3/9 | - |
11-61731727-T-C | BEST1 | c.*133T>C | - | 3-UTRSNV | 11/11 | - |
10-104719096-G-A | CNNM2 | c.1621+39238G>A | - | IntronicSNV | - | 1/7 |
6-109768295-G-A | MICAL1 | c.2208C>T | p.Tyr736Tyr | Synonymous | 17/25 | - |
10-5139685-G-T | AKR1C3 | c.312G>T | p.Lys104Asn | Missense | 3/9 | - |
10-5139685-G-C | AKR1C3 | c.312G>C | p.Lys104Asn | Missense | 3/9 | - |
19-1047078-A-G | ABCA7 | c.1845+55A>G | - | IntronicSNV | - | 14/46 |
10-72592987-G-T | SGPL1 | c.28-11243G>T | - | IntronicSNV | - | 2/14 |
16-68435025-C-T | SMPD3 | c.-268-14463G>A | - | intron_variant | - | 1/8 |
16-68435025-C-A | SMPD3 | c.-268-14463G>T | - | intron_variant | - | 1/8 |
12-57604802-A-G | LRP1 | c.12916+140A>G | - | IntronicSNV | - | 83/88 |
6-151198895-T-C | MTHFD1L | c.364-14T>C | - | IntronicSNV | - | 3/27 |
6-151198895-T-G | MTHFD1L | c.364-14T>G | - | IntronicSNV | - | 3/27 |
12-12301898-C-T | LRP6 | c.3184G>A | p.Val1062Ile | Missense | 14/23 | - |
2-217511100-C-T | IGFBP2 | c.442+12412C>T | - | IntronicSNV | - | 1/3 |
16-46705576-C-G | VPS35 | c.1524+41G>C | - | IntronicSNV | - | 12/16 |
14-100133942-T-A | HHIPL1 | c.1649-617T>A | - | IntronicSNV | - | 6/8 |
10-52070824-C-T | SGMS1 | c.895+198G>A | - | IntronicSNV | - | 9/10 |
11-36130797-G-A | LDLRAD3 | c.454+10786G>A | - | IntronicSNV | - | 4/5 |
9-90155692-G-A | DAPK1 | c.62+41638G>A | - | IntronicSNV | - | 2/25 |
7-24324879-T-A | NPY | c.20T>A | p.Leu7Gln | Missense | 2/4 | - |
17-61563458-A-C | ACE | c.2059-460A>C | - | IntronicSNV | - | 13/24 |
17-61563458-A-G | ACE | c.2059-460A>G | - | IntronicSNV | - | 13/24 |
10-17201247-A-G | TRDMT1 | c.460-19T>C | - | IntronicSNV | - | 6/10 |
11-59951433-A-G | MS4A6A | c.-127+360T>C | - | intron_variant | - | 1/6 |
11-36028475-A-C | LDLRAD3 | c.47-29178A>C | - | IntronicSNV | - | 1/5 |
20-44532255-A-G | PLTP | c.943-1012T>C | - | IntronicSNV | - | 10/15 |
22-46630634-G-C | PPARA | c.1160-396G>C | - | IntronicSNV | - | 7/7 |
22-46569171-G-A | PPARA | c.-43+21298G>A | - | intron_variant | - | 2/7 |
6-30611350-C-A | ATAT1 | c.*11C>A | - | 3-UTRSNV | 11/11 | - |
16-68412028-A-G | SMPD3 | c.1-5944T>C | - | IntronicSNV | - | 2/8 |
10-52008140-C-T | ASAH2 | c.127+104G>A | - | IntronicSNV | - | 1/19 |
1-101199886-A-G | VCAM1 | c.1793-172A>G | - | IntronicSNV | - | 7/8 |
4-156133712-C-T | NPY2R | c.1-1380C>T | - | IntronicSNV | - | 1/1 |
1-53792651-A-C | LRP8 | c.138T>G | p.Asp46Glu | Missense | 2/19 | - |
11-121327859-G-A | SORL1 | c.285+4534G>A | - | IntronicSNV | - | 1/47 |
20-44530838-G-C | PLTP | c.1175+68C>G | - | IntronicSNV | - | 12/15 |
6-109769216-A-G | MICAL1 | c.1856-50T>C | - | IntronicSNV | - | 13/24 |
6-109769216-A-C | MICAL1 | c.1856-50T>G | - | IntronicSNV | - | 13/24 |
6-109769216-A-T | MICAL1 | c.1856-50T>A | - | IntronicSNV | - | 13/24 |
22-46553308-C-T | PPARA | c.-43+5435C>T | - | intron_variant | - | 2/7 |
18-21140432-T-C | NPC1 | c.644A>G | p.His215Arg | Missense | 6/25 | - |
10-17210822-A-G | TRDMT1 | c.251+18T>C | - | IntronicSNV | - | 3/10 |
15-51570929-C-T | CYP19A1 | c.1-35820G>A | - | IntronicSNV | - | 1/9 |
19-10395208-C-T | ICAM1 | c.1055C>T | p.Pro352Leu | Missense | 5/7 | - |
10-52130834-G-A | SGMS1 | c.1-26960C>T | - | IntronicSNV | - | 2/10 |
11-77930499-G-A | GAB2 | c.1888-38C>T | - | IntronicSNV | - | 9/9 |
7-107244545-C-T | BCAP29 | c.589+3595C>T | - | IntronicSNV | - | 6/7 |
2-113537223-C-A | IL1A | c.340G>T | p.Ala114Ser | Missense | 5/7 | - |
16-68460215-T-C | SMPD3 | c.-269+22041A>G | - | intron_variant | - | 1/8 |
11-85698207-A-T | PICALM | c.1408+3086T>A | - | IntronicSNV | - | 13/19 |
3-45996761-G-A | FYCO1 | c.3924C>T | p.Leu1308Leu | Synonymous | 14/18 | - |
16-68460215-T-A | SMPD3 | c.-269+22041A>T | - | intron_variant | - | 1/8 |
10-52187304-A-G | SGMS1 | c.-232+5932T>C | - | intron_variant | - | 6/10 |
12-57539082-C-T | LRP1 | c.650C>T | p.Ala217Val | Missense | 6/89 | - |
1-11255238-A-G | MTOR | c.4253+4077T>C | - | IntronicSNV | - | 28/57 |
20-23616305-T-C | CST3 | c.244-301A>G | - | IntronicSNV | - | 1/2 |
1-154544651-G-T | CHRNB2 | c.1338+14G>T | - | IntronicSNV | - | 5/5 |
10-72616064-C-T | SGPL1 | c.410-1307C>T | - | IntronicSNV | - | 5/14 |
12-12350113-G-C | LRP6 | c.647+6024C>G | - | IntronicSNV | - | 3/22 |
20-31383353-T-G | DNMT3B | c.1252+13T>G | - | IntronicSNV | - | 11/22 |
20-31383353-T-A | DNMT3B | c.1252+13T>A | - | IntronicSNV | - | 11/22 |
6-28257377-T-C | PGBD1 | c.642+2432T>C | - | IntronicSNV | - | 4/6 |
16-68387496-A-T | PRMT7 | c.1650+27A>T | - | IntronicSNV | - | 16/18 |
11-36525503-T-G | TRAF6 | c.-115-2142A>C | - | intron_variant | - | 1/7 |
22-42193913-T-C | MEI1 | c.3780-1345T>C | - | IntronicSNV | - | 30/30 |
15-101066561-C-T | CERS3 | c.-92+2457G>A | - | intron_variant | - | 2/12 |
19-45404691-A-T | TOMM40 | c.946+124A>T | - | IntronicSNV | - | 9/9 |
12-12350113-G-A | LRP6 | c.647+6024C>T | - | IntronicSNV | - | 3/22 |
7-143101736-G-A | EPHA1 | c.150+2968C>T | - | IntronicSNV | - | 2/17 |
7-129663496-C-A | ZC3HC1 | c.1088G>T | p.Arg363Leu | Missense | 8/10 | - |
19-1046520-T-G | ABCA7 | c.1622+115T>G | - | IntronicSNV | - | 13/46 |
6-32007865-T-C | CYP21A2 | c.822T>C | p.Ser274Ser | Synonymous | 7/10 | - |
10-94333827-G-A | IDE | c.1-51C>T | - | 5-UTRSNV | 1/25 | - |
17-61560763-T-C | ACE | c.1488-58T>C | - | IntronicSNV | - | 9/24 |
11-218613-G-A | SIRT3 | c.753+219C>T | - | IntronicSNV | - | 6/6 |
11-85716032-T-C | PICALM | c.808-1538A>G | - | IntronicSNV | - | 8/19 |
10-52373976-G-T | SGMS1 | c.-684+9491C>A | - | intron_variant | - | 1/10 |
20-31395477-G-A | DNMT3B | c.2421-91G>A | - | IntronicSNV | - | 22/22 |
12-13717508-G-A | GRIN2B | c.2664C>T | p.Thr888Thr | Synonymous | 13/13 | - |
15-51540387-G-A | CYP19A1 | c.1-5278C>T | - | IntronicSNV | - | 1/9 |
2-217504112-A-G | IGFBP2 | c.442+5424A>G | - | IntronicSNV | - | 1/3 |
8-17913970-G-A | ASAH1 | c.*1073C>T | - | 3-UTRSNV | 14/14 | - |
15-101058935-G-T | CERS3 | c.-2+2937C>A | - | intron_variant | - | 3/12 |
15-101058935-G-C | CERS3 | c.-2+2937C>G | - | intron_variant | - | 3/12 |
15-101058935-G-A | CERS3 | c.-2+2937C>T | - | intron_variant | - | 3/12 |
2-223293168-G-T | SGPP2 | c.219+3628G>T | - | IntronicSNV | - | 1/4 |
22-46590278-A-G | PPARA | c.1-4003A>G | - | IntronicSNV | - | 2/7 |
3-148896430-A-G | CP | c.2662-12T>C | - | IntronicSNV | - | 15/18 |
1-101195659-G-T | VCAM1 | c.1204+721G>T | - | IntronicSNV | - | 5/8 |
11-27677041-C-T | BDNF | c.*2326G>A | - | 3_prime_UTR_variant | 1/1 | - |
19-11233941-A-G | LDLR | c.2232A>G | p.Arg744Arg | Synonymous | 15/18 | - |
10-60145342-G-C | TFAM | c.35G>C | p.Ser12Thr | Missense | 1/7 | - |
11-230368-C-T | SIRT3 | c.381+84G>A | - | IntronicSNV | - | 4/6 |
7-143092269-G-A | EPHA1 | c.2090C>T | p.Pro697Leu | Missense | 13/18 | - |
5-6666922-G-A | SRD5A1 | c.714-1393G>A | - | IntronicSNV | - | 4/4 |
2-68470425-T-G | PPP3R1 | c.3+8832A>C | - | IntronicSNV | - | 1/5 |
19-45737218-A-C | EXOC3L2 | c.-23+233T>G | - | intron_variant | - | 1/9 |
1-156838141-T-C | NTRK1 | c.574+100T>C | - | IntronicSNV | - | 5/16 |
19-10334443-A-C | S1PR2 | c.*77T>G | - | 3-UTRSNV | 2/2 | - |
19-10334443-A-T | S1PR2 | c.*77T>A | - | 3-UTRSNV | 2/2 | - |
19-1042809-A-G | ABCA7 | c.563A>G | p.Glu188Gly | Missense | 7/47 | - |
16-46723079-C-T | VPS35 | c.1-34G>A | - | 5-UTRSNV | 1/17 | - |
3-154858685-G-A | MME | c.957+604G>A | - | IntronicSNV | - | 10/22 |
2-217500819-A-G | IGFBP2 | c.442+2131A>G | - | IntronicSNV | - | 1/3 |
18-21114700-T-C | NPC1 | c.3478-177A>G | - | IntronicSNV | - | 22/24 |
19-45448036-T-C | APOC4 | c.107T>C | p.Leu36Pro | Missense | 2/3 | - |
11-233067-C-A | SIRT3 | c.196G>T | p.Val66Phe | Missense | 3/7 | - |
11-233067-C-T | SIRT3 | c.196G>A | p.Val66Ile | Missense | 3/7 | - |
10-17211383-T-C | TRDMT1 | c.175-467A>G | - | IntronicSNV | - | 2/10 |
13-33628239-G-A | KL | c.1155G>A | p.Lys385Lys | Synonymous | 2/5 | - |
11-59945745-T-C | MS4A6A | c.411A>G | p.Leu137Leu | Synonymous | 5/7 | - |
10-108659754-A-T | SORCS1 | c.626+56517T>A | - | IntronicSNV | - | 2/25 |
10-108659754-A-G | SORCS1 | c.626+56517T>C | - | IntronicSNV | - | 2/25 |
10-108659754-A-C | SORCS1 | c.626+56517T>G | - | IntronicSNV | - | 2/25 |
10-60148692-A-C | TFAM | c.441+113A>C | - | IntronicSNV | - | 4/6 |
10-60148692-A-G | TFAM | c.441+113A>G | - | IntronicSNV | - | 4/6 |
10-72639621-C-A | SGPL1 | c.*2529C>A | - | 3-UTRSNV | 15/15 | - |
10-72639621-C-T | SGPL1 | c.*2529C>T | - | 3-UTRSNV | 15/15 | - |
10-17211383-T-A | TRDMT1 | c.175-467A>T | - | IntronicSNV | - | 2/10 |
6-11774583-A-G | ADTRP | c.153+4257T>C | - | IntronicSNV | - | 1/5 |
15-51502986-G-A | CYP19A1 | c.*19C>T | - | 3-UTRSNV | 10/10 | - |
10-73589418-T-C | PSAP | c.376-584A>G | - | IntronicSNV | - | 4/13 |
9-114662783-C-T | UGCG | c.98+3190C>T | - | IntronicSNV | - | 1/8 |
3-12393125-C-G | PPARG | c.1-28080C>G | - | IntronicSNV | - | 1/6 |
19-9952743-G-T | PIN1 | c.271+3419G>T | - | IntronicSNV | - | 2/3 |
3-46003742-C-T | FYCO1 | c.3412G>A | p.Glu1138Lys | Missense | 11/18 | - |
11-36103442-C-G | LDLRAD3 | c.319+114C>G | - | IntronicSNV | - | 3/5 |
12-57602815-C-A | LRP1 | c.12146-51C>A | - | IntronicSNV | - | 78/88 |
3-46005478-G-A | FYCO1 | c.3269+350C>T | - | IntronicSNV | - | 10/17 |
16-72088461-A-C | HP | c.1-91A>C | - | IntergenicSNV | 1/7 | - |
17-47587819-C-T | NGFR | c.614C>T | p.Ser205Leu | Missense | 4/6 | - |
7-143097320-C-T | EPHA1 | c.433-174G>A | - | IntronicSNV | - | 3/17 |
10-94374377-C-G | KIF11 | c.1032+1001C>G | - | IntronicSNV | - | 8/21 |
10-94374377-C-T | KIF11 | c.1032+1001C>T | - | IntronicSNV | - | 8/21 |
10-5147909-G-A | AKR1C3 | c.929+40G>A | - | IntronicSNV | - | 8/8 |
10-73576307-C-T | PSAP | c.*891G>A | - | 3-UTRSNV | 14/14 | - |
20-31366243-A-G | DNMT3B | c.1-1887A>G | - | IntronicSNV | - | 1/22 |
4-74607910-C-T | CXCL8 | c.284+161C>T | - | IntronicSNV | - | 3/3 |
2-25518862-G-A | DNMT3A | c.177+4146C>T | - | IntronicSNV | - | 3/22 |
6-30599702-G-A | ATAT1 | c.537+3495G>A | - | IntronicSNV | - | 6/10 |
11-121475922-T-A | SORL1 | c.4752T>A | p.Ala1584Ala | Synonymous | 34/48 | - |
5-179250130-C-T | SQSTM1 | c.49+77C>T | - | IntronicSNV | - | 3/8 |
14-64920665-G-A | MTHFD1 | c.2565+86G>A | - | IntronicSNV | - | 25/27 |
1-11851319-C-T | MTHFR | c.1697G>A | p.Gly566Glu | Missense | 11/12 | - |
14-74966763-G-A | LTBP2 | c.*824C>T | - | 3-UTRSNV | 36/36 | - |
6-32007849-G-A | CYP21A2 | c.806G>A | p.Ser269Asn | Missense | 7/10 | - |
1-11850365-T-A | MTHFR | c.*372A>T | - | 3-UTRSNV | 12/12 | - |
1-11850365-T-G | MTHFR | c.*372A>C | - | 3-UTRSNV | 12/12 | - |
11-224393-A-G | SIRT3 | c.382-154T>C | - | IntronicSNV | - | 4/6 |
9-32412622-C-T | ACO1 | c.404+3973C>T | - | IntronicSNV | - | 4/20 |
19-1038222-C-T | CNN2 | c.*323C>T | - | 3-UTRSNV | 7/7 | - |
15-51591204-T-C | CYP19A1 | c.-39+39488A>G | - | intron_variant | - | 1/9 |
9-99038030-G-A | HSD17B3 | c.202-20805C>T | - | IntronicSNV | - | 2/10 |
17-2126504-G-C | SMG6 | c.145+13282C>G | - | IntronicSNV | - | 3/11 |
10-52154517-G-A | SGMS1 | c.-232+38719C>T | - | intron_variant | - | 6/10 |
11-61731977-G-A | FTH1 | c.*222C>T | - | 3-UTRSNV | 4/4 | - |
16-72094348-G-C | HP | c.780G>C | p.Glu260Asp | Missense | 7/7 | - |
10-52131993-G-A | SGMS1 | c.1-28119C>T | - | IntronicSNV | - | 6/10 |
16-46710869-T-A | VPS35 | c.805-265A>T | - | IntronicSNV | - | 7/16 |
16-46710869-T-C | VPS35 | c.805-265A>G | - | IntronicSNV | - | 7/16 |
16-72094348-G-A | HP | c.780G>A | p.Glu260Glu | Synonymous | 7/7 | - |
17-7286326-T-A | TNK1 | c.81T>A | p.Leu27Leu | Synonymous | 2/13 | - |
11-223272-A-G | SIRT3 | c.543+806T>C | - | IntronicSNV | - | 5/6 |
17-7285831-C-T | TNK1 | c.1-415C>T | - | IntronicSNV | - | 1/12 |
1-101188192-G-A | VCAM1 | c.341-384G>A | - | IntronicSNV | - | 2/8 |
1-101188192-G-C | VCAM1 | c.341-384G>C | - | IntronicSNV | - | 2/8 |
6-151213211-T-C | MTHFD1L | c.780+4094T>C | - | IntronicSNV | - | 7/27 |
12-50529736-G-A | CERS5 | c.753C>T | p.Asp251Asp | Synonymous | 7/10 | - |
3-46007702-T-C | FYCO1 | c.3057+67A>G | - | IntronicSNV | - | 8/17 |
12-57567762-C-T | LRP1 | c.3546C>T | p.Cys1182Cys | Synonymous | 22/89 | - |
7-24324588-C-T | NPY | c.1-272C>T | - | IntronicSNV | - | 1/3 |
10-69668014-G-T | SIRT1 | c.1170+132G>T | - | IntronicSNV | - | 6/8 |
19-10291181-T-C | DNMT1 | c.290A>G | p.His97Arg | Missense | 4/40 | - |
2-223384515-T-C | SGPP2 | c.379-1971T>C | - | IntronicSNV | - | 2/4 |
1-207823161-T-A | CR1L | c.97+4486T>A | - | IntronicSNV | - | 1/11 |
1-207823161-T-C | CR1L | c.97+4486T>C | - | IntronicSNV | - | 1/11 |
16-72093017-G-A | HP | c.372G>A | p.Val124Val | Synonymous | 6/7 | - |
22-46610067-G-A | PPARA | c.209-1003G>A | - | IntronicSNV | - | 3/7 |
3-46008790-G-A | FYCO1 | c.2036C>T | p.Ala679Val | Missense | 8/18 | - |
2-169498189-A-G | CERS6 | c.465+10637A>G | - | IntronicSNV | - | 4/9 |
11-36059983-A-G | LDLRAD3 | c.193+2184A>G | - | IntronicSNV | - | 2/5 |
2-25524944-T-C | DNMT3A | c.73-1832A>G | - | IntronicSNV | - | 2/22 |
3-154827787-C-T | MME | c.197-4996C>T | - | IntronicSNV | - | 3/22 |
4-164268028-T-A | NPY5R | c.-80-576T>A | - | intron_variant | - | 2/3 |
11-221824-G-A | SIRT3 | c.543+2254C>T | - | IntronicSNV | - | 5/6 |
3-12381410-G-A | PPARG | c.1-39795G>A | - | IntronicSNV | - | 1/6 |
15-101073157-T-C | CERS3 | c.-354-3877A>G | - | intron_variant | - | 1/12 |
X-91835588-A-T | PCDH11X | c.3338-37675A>T | - | IntronicSNV | - | 5/5 |
X-91835588-A-G | PCDH11X | c.3338-37675A>G | - | IntronicSNV | - | 5/5 |
6-30611350-C-T | ATAT1 | c.*11C>T | - | 3-UTRSNV | 11/11 | - |
3-12376745-G-C | PPARG | c.1-44460G>C | - | IntronicSNV | - | 1/6 |
2-25535543-T-C | DNMT3A | c.72+1239A>G | - | IntronicSNV | - | 2/22 |
1-57044331-C-T | PLPP3 | c.139+220G>A | - | IntronicSNV | - | 1/5 |
19-51741143-A-G | CD33 | c.925-1630A>G | - | IntronicSNV | - | 6/6 |
19-49126587-T-G | SPHK2 | c.40-2738T>G | - | IntronicSNV | - | 2/6 |
15-101002738-G-C | CERS3 | c.846-6487C>G | - | IntronicSNV | - | 11/12 |
15-101002738-G-A | CERS3 | c.846-6487C>T | - | IntronicSNV | - | 11/12 |
10-104596924-C-T | CYP17A1 | c.195G>A | p.Ser65Ser | Synonymous | 1/8 | - |
11-36226559-C-T | LDLRAD3 | c.455-22076C>T | - | IntronicSNV | - | 4/5 |
1-11181327-C-T | MTOR | c.6909G>A | p.Leu2303Leu | Synonymous | 49/58 | - |
15-51529112-T-C | CYP19A1 | c.240A>G | p.Val80Val | Synonymous | 3/10 | - |
19-49469070-G-T | FTL | c.146G>T | p.Ser49Ile | Missense | 2/4 | - |
1-156785617-G-T | SH2D2A | c.123+181C>A | - | IntronicSNV | - | 2/8 |
10-52198016-A-G | SGMS1 | c.-312-4700T>C | - | intron_variant | - | 5/10 |
4-23844330-T-C | PPARGC1A | c.235-10956A>G | - | IntronicSNV | - | 2/12 |
1-119958862-G-A | HSD3B2 | c.142+678G>A | - | IntronicSNV | - | 2/3 |
14-88450770-G-A | GALC | c.550C>T | p.Arg184Cys | Missense | 5/17 | - |
9-32401610-A-G | ACO1 | c.1-3895A>G | - | IntronicSNV | - | 1/20 |
1-11852300-C-T | MTHFR | c.1632+35G>A | - | IntronicSNV | - | 10/11 |
4-156132216-G-A | NPY2R | c.-49+1995G>A | - | intron_variant | - | 1/1 |
17-42423665-A-G | GRN | c.-8+963A>G | - | intron_variant | - | 1/12 |
22-42191540-C-T | MEI1 | c.3660C>T | p.Phe1220Phe | Synonymous | 29/31 | - |
7-100004446-C-T | ZCWPW1 | c.1066-25G>A | - | IntronicSNV | - | 11/17 |
7-100004446-C-A | ZCWPW1 | c.1066-25G>T | - | IntronicSNV | - | 11/17 |
11-73714339-G-A | UCP3 | c.824+533C>T | - | IntronicSNV | - | 6/6 |
3-46000982-G-A | FYCO1 | c.3490C>T | p.Leu1164Phe | Missense | 12/18 | - |
3-46000982-G-C | FYCO1 | c.3490C>G | p.Leu1164Val | Missense | 12/18 | - |
10-17204187-G-A | TRDMT1 | c.301C>T | p.His101Tyr | Missense | 4/11 | - |
12-57589659-C-T | LRP1 | c.8574C>T | p.Cys2858Cys | Synonymous | 54/89 | - |
10-108923118-C-T | SORCS1 | c.558+609G>A | - | IntronicSNV | - | 1/25 |
3-12338849-A-G | PPARG | c.-3+9330A>G | - | intron_variant | - | 1/6 |
4-23810647-C-T | PPARGC1A | c.2019+3723G>A | - | IntronicSNV | - | 10/12 |
19-8298411-G-A | CERS4 | c.1-17550G>A | - | IntronicSNV | - | 2/11 |
1-154548721-T-C | CHRNB2 | c.*313T>C | - | 3-UTRSNV | 6/6 | - |
1-154548721-T-G | CHRNB2 | c.*313T>G | - | 3-UTRSNV | 6/6 | - |
22-41903813-A-C | ACO2 | c.192A>C | p.Thr64Thr | Synonymous | 3/18 | - |
13-33609282-A-G | KL | c.819+17885A>G | - | IntronicSNV | - | 1/4 |
22-46572744-G-A | PPARA | c.1-21537G>A | - | IntronicSNV | - | 2/7 |
14-64873599-A-C | MTHFD1 | c.127-4209A>C | - | IntronicSNV | - | 2/27 |
15-51534547-C-T | CYP19A1 | c.145+418G>A | - | IntronicSNV | - | 2/9 |
15-51534547-C-A | CYP19A1 | c.145+418G>T | - | IntronicSNV | - | 2/9 |
8-17931704-C-T | ASAH1 | c.173+1346G>A | - | IntronicSNV | - | 2/13 |
16-10033918-A-G | GRIN2A | c.415-1510T>C | - | IntronicSNV | - | 3/13 |
10-73597960-A-G | PSAP | c.41-3698T>C | - | IntronicSNV | - | 1/13 |
9-114690253-G-A | UGCG | c.558+1477G>A | - | IntronicSNV | - | 5/8 |
11-73689104-G-A | UCP2 | c.164C>T | p.Ala55Val | Missense | 4/8 | - |
2-25551130-C-T | DNMT3A | c.-178+13565G>A | - | intron_variant | - | 1/22 |
3-12450354-G-A | PPARG | c.735+2774G>A | - | IntronicSNV | - | 5/6 |
3-12450354-G-T | PPARG | c.735+2774G>T | - | IntronicSNV | - | 5/6 |
17-42019494-C-T | PPY | c.-1+295G>A | - | intron_variant | - | 1/3 |
4-57797100-G-T | REST | c.2076G>T | p.Glu692Asp | Missense | 4/4 | - |
10-52360372-A-T | SGMS1 | c.-683-10365T>A | - | intron_variant | - | 1/10 |
1-222823529-A-C | MIA3 | c.3632-105A>C | - | IntronicSNV | - | 8/27 |
19-45403858-A-G | TOMM40 | c.644-129A>G | - | IntronicSNV | - | 6/9 |
1-154551032-C-G | CHRNB2 | c.*2624C>G | - | 3-UTRSNV | 6/6 | - |
4-23849467-T-G | PPARGC1A | c.235-16093A>C | - | IntronicSNV | - | 2/12 |
13-33599198-A-T | KL | c.819+7801A>T | - | IntronicSNV | - | 1/4 |
19-49132634-G-A | SPHK2 | c.1392G>A | p.Leu464Leu | Synonymous | 7/7 | - |
1-101203698-C-T | VCAM1 | c.2079C>T | p.Asp693Asp | Synonymous | 9/9 | - |
8-27462481-A-G | CLU | c.789T>C | p.His263His | Synonymous | 5/9 | - |
10-52360372-A-G | SGMS1 | c.-683-10365T>C | - | intron_variant | - | 1/10 |
5-6657808-C-T | SRD5A1 | c.562+1516C>T | - | IntronicSNV | - | 3/4 |
16-46696284-G-A | VPS35 | c.1938C>T | p.His646His | Synonymous | 15/17 | - |
12-57595066-G-A | LRP1 | c.10345+130G>A | - | IntronicSNV | - | 65/88 |
2-68413348-G-T | PPP3R1 | c.465+252C>A | - | IntronicSNV | - | 5/5 |
6-52051274-G-A | IL17A | c.27+18G>A | - | IntronicSNV | - | 1/2 |
12-13739553-T-A | GRIN2B | c.2011-14655A>T | - | IntronicSNV | - | 9/12 |
11-73715134-C-T | UCP3 | c.644-82G>A | - | IntronicSNV | - | 5/6 |
8-17922414-A-G | ASAH1 | c.431-374T>C | - | IntronicSNV | - | 5/13 |
15-74638965-A-T | CYP11A1 | c.425+1276T>A | - | IntronicSNV | - | 2/8 |
2-149452801-G-A | EPC2 | c.313+4859G>A | - | IntronicSNV | - | 2/13 |
1-115873047-G-A | NGF | c.-137+7778C>T | - | intron_variant | - | 1/2 |
17-40972425-T-C | BECN1 | c.197+367A>G | - | intron_variant | - | 3/11 |
17-38231853-T-C | THRA | c.53+1059T>C | - | IntronicSNV | - | 2/9 |
2-217505337-T-C | IGFBP2 | c.442+6649T>C | - | IntronicSNV | - | 1/3 |
17-38231853-T-G | THRA | c.53+1059T>G | - | IntronicSNV | - | 2/9 |
11-36103228-A-T | LDLRAD3 | c.219A>T | p.Pro73Pro | Synonymous | 3/6 | - |
10-94414263-A-T | KIF11 | c.*710A>T | - | 3-UTRSNV | 22/22 | - |
20-44538427-T-C | PLTP | c.330-117A>G | - | IntronicSNV | - | 4/15 |
1-119958011-C-T | HSD3B2 | c.1-32C>T | - | 5-UTRSNV | 2/4 | - |
1-119960008-G-A | HSD3B2 | c.142+1824G>A | - | IntronicSNV | - | 2/3 |
10-52351438-G-T | SGMS1 | c.-683-1431C>A | - | intron_variant | - | 1/10 |
2-169554005-C-T | CERS6 | c.609+2444C>T | - | IntronicSNV | - | 6/9 |
3-12447153-G-T | PPARG | c.536-228G>T | - | IntronicSNV | - | 4/6 |
2-217525243-T-C | IGFBP2 | c.443-37T>C | - | IntronicSNV | - | 1/3 |
1-207786289-A-G | CR1 | c.5225+903A>G | - | IntronicSNV | - | 31/38 |
1-11854671-C-A | MTHFR | c.1167-76G>T | - | IntronicSNV | - | 7/11 |
10-72623954-A-G | SGPL1 | c.616-4148A>G | - | IntronicSNV | - | 7/14 |
19-45409579-C-G | APOE | c.1-303C>G | - | IntronicSNV | - | 1/3 |
19-45409579-C-T | APOE | c.1-303C>T | - | IntronicSNV | - | 1/3 |
10-52341930-G-A | SGMS1 | c.-589+7983C>T | - | intron_variant | - | 2/10 |
3-12466214-G-A | PPARG | c.1186+7561G>A | - | IntronicSNV | - | 6/6 |
1-207786289-A-T | CR1 | c.5225+903A>T | - | IntronicSNV | - | 31/38 |
2-127830299-C-G | BIN1 | c.166-1907G>C | - | IntronicSNV | - | 2/18 |
19-9959014-G-A | PIN1 | c.382+198G>A | - | IntronicSNV | - | 3/3 |
7-22768707-T-G | IL6 | c.324+282T>G | - | IntronicSNV | - | 3/4 |
7-22768707-T-A | IL6 | c.324+282T>A | - | IntronicSNV | - | 3/4 |
4-23885568-G-A | PPARGC1A | c.234+807C>T | - | IntronicSNV | - | 2/12 |
15-100997743-A-C | CERS3 | c.846-1492T>G | - | IntronicSNV | - | 11/12 |
8-143999172-C-T | CYP11B2 | c.85G>A | p.Ala29Thr | Missense | 1/9 | - |
2-223324589-T-C | SGPP2 | c.220-14698T>C | - | IntronicSNV | - | 1/4 |
12-51381750-T-C | SLC11A2 | c.*358A>G | - | 3-UTRSNV | 16/16 | - |
17-42030965-C-T | PYY | c.1-114G>A | - | IntronicSNV | 4/7 | - |
19-10382537-G-A | ICAM1 | c.67+635G>A | - | IntronicSNV | - | 1/6 |
10-52269914-T-C | SGMS1 | c.-498+9677A>G | - | intron_variant | - | 3/10 |
19-10370654-A-G | MRPL4 | c.*165A>G | - | 3-UTRSNV | 9/9 | - |
17-40975715-C-G | BECN1 | c.129+51G>C | - | intron_variant | - | 2/11 |
10-94320139-T-C | IDE | c.98+13540A>G | - | IntronicSNV | - | 1/24 |
19-11216561-A-C | LDLR | c.694+285A>C | - | IntronicSNV | - | 4/17 |
1-11864586-T-C | MTHFR | c.-14+1359A>G | - | intron_variant | - | 1/11 |
22-46636470-C-T | PPARA | c.*5193C>T | - | 3-UTRSNV | 8/8 | - |
10-17188385-A-G | TRDMT1 | c.*2654T>C | - | 3-UTRSNV | 11/11 | - |
10-17210822-A-T | TRDMT1 | c.251+18T>A | - | IntronicSNV | - | 3/10 |
2-149423647-G-A | EPC2 | c.153+20908G>A | - | IntronicSNV | - | 1/13 |
14-74962233-G-A | ISCA2 | c.*530G>A | - | 3-UTRSNV | 4/4 | - |
2-127830299-C-A | BIN1 | c.166-1907G>T | - | IntronicSNV | - | 2/18 |
14-104146421-C-T | KLC1 | c.1650+539C>T | - | IntronicSNV | - | 13/14 |
17-42085972-C-T | NAGS | c.*3C>T | - | 3-UTRSNV | 7/7 | - |
19-11216561-A-T | LDLR | c.694+285A>T | - | IntronicSNV | - | 4/17 |
14-74950964-T-C | NPC2 | c.363+154A>G | - | IntronicSNV | - | 3/4 |
19-10395796-C-G | ICAM1 | c.1432C>G | p.Arg478Gly | Missense | 7/7 | - |
19-10395796-C-T | ICAM1 | c.1432C>T | p.Arg478Trp | Missense | 7/7 | - |
4-164246489-T-G | NPY1R | c.1121A>C | p.Lys374Thr | Missense | 3/3 | - |
6-32007849-G-C | CYP21A2 | c.806G>C | p.Ser269Thr | Missense | 7/10 | - |
17-47591609-T-G | NGFR | c.*1238T>G | - | 3-UTRSNV | 6/6 | - |
10-52093995-C-T | SGMS1 | c.624-6913G>A | - | IntronicSNV | - | 7/10 |
14-100384232-A-C | EML1 | c.1877+46A>C | - | IntronicSNV | - | 17/22 |
11-78068039-T-C | GAB2 | c.75+60653A>G | - | IntronicSNV | - | 1/9 |
16-67476315-G-C | ATP6V0D1 | c.561+687C>G | - | IntronicSNV | - | 4/7 |
10-88069416-G-C | GRID1 | c.235+54282C>G | - | IntronicSNV | - | 2/15 |
3-133476083-G-A | TF | c.870+230G>A | - | IntronicSNV | - | 7/16 |
10-52279502-T-C | SGMS1 | c.-498+89A>G | - | intron_variant | - | 3/10 |
2-31765556-C-A | SRD5A2 | c.279-6720G>T | - | intron_variant | - | 2/5 |
2-127844735-A-C | BIN1 | c.85-10453T>G | - | IntronicSNV | - | 1/18 |
9-87429290-A-G | NTRK2 | c.*3796A>G | - | 3-UTRSNV | 15/15 | - |
4-156132216-G-C | NPY2R | c.-49+1995G>C | - | intron_variant | - | 1/1 |
15-101083687-G-C | CERS3 | c.-355+1169C>G | - | intron_variant | - | 1/12 |
10-108482088-C-T | SORCS1 | c.1024+7720G>A | - | IntronicSNV | - | 6/25 |
1-156846233-G-T | NTRK1 | c.1674G>T | p.Gln558His | Missense | 14/17 | - |
3-148904434-T-G | CP | c.1950A>C | p.Gly650Gly | Synonymous | 11/19 | - |
6-47538130-A-G | CD2AP | c.542-3670A>G | - | IntronicSNV | - | 5/17 |
2-31765556-C-T | SRD5A2 | c.279-6720G>A | - | intron_variant | - | 2/5 |
19-10403947-T-C | ICAM5 | c.1465+25T>C | - | IntronicSNV | - | 6/10 |
19-18988666-T-C | GDF1 | c.-313+1073A>G | - | intron_variant | - | 6/7 |
1-115878242-T-G | NGF | c.-137+2583A>C | - | intron_variant | - | 1/2 |
2-31788989-G-A | SRD5A2 | c.278+16701C>T | - | intron_variant | - | 2/5 |
1-207692049-A-G | CR1 | c.488-4907A>G | - | IntronicSNV | - | 4/38 |
11-36202307-G-A | LDLRAD3 | c.455-46328G>A | - | IntronicSNV | - | 4/5 |
2-68418293-G-A | PPP3R1 | c.44-2471C>T | - | IntronicSNV | - | 2/5 |
16-46736263-C-T | MYLK3 | c.*5353G>A | - | 3-UTRSNV | 13/13 | - |
10-52327409-T-A | SGMS1 | c.-589+22504A>T | - | intron_variant | - | 2/10 |
10-104595849-G-C | CYP17A1 | c.298-700C>G | - | IntronicSNV | - | 1/7 |
10-104595849-G-A | CYP17A1 | c.298-700C>T | - | IntronicSNV | - | 1/7 |
10-104595849-G-T | CYP17A1 | c.298-700C>A | - | IntronicSNV | - | 1/7 |
14-64884106-T-C | MTHFD1 | c.479-500T>C | - | IntronicSNV | - | 6/27 |
19-45734433-T-C | EXOC3L2 | c.90+588A>G | - | IntronicSNV | - | 2/9 |
16-67478976-C-T | ATP6V0D1 | c.303-367G>A | - | IntronicSNV | - | 2/7 |
5-179264915-G-T | SQSTM1 | c.*1322G>T | - | 3-UTRSNV | 9/9 | - |
19-51741599-C-T | CD33 | c.925-1174C>T | - | IntronicSNV | - | 6/6 |
11-60057715-A-G | MS4A4A | c.42-1983A>G | - | IntronicSNV | - | 1/5 |
14-64894362-C-T | MTHFD1 | c.1264+171C>T | - | IntronicSNV | - | 12/27 |
16-46705502-T-C | VPS35 | c.1524+115A>G | - | IntronicSNV | - | 12/16 |
13-33593100-C-A | KL | c.819+1703C>A | - | IntronicSNV | - | 1/4 |
19-18974200-A-G | UPF1 | c.2601-47A>G | - | IntronicSNV | - | 18/23 |
9-87409367-G-A | NTRK2 | c.1397-16090G>A | - | IntronicSNV | - | 14/14 |
21-45681153-T-C | DNMT3L | c.1-11A>G | - | IntronicSNV | - | 1/11 |
2-25469913-C-T | DNMT3A | c.1122+7G>A | - | IntronicSNV | - | 9/22 |
14-64859191-C-T | MTHFD1 | c.41+4005C>T | - | IntronicSNV | - | 1/27 |
10-91002927-C-T | LIPA | c.229+2506G>A | - | IntronicSNV | - | 3/9 |
12-13791698-C-G | GRIN2B | c.1126-22107G>C | - | IntronicSNV | - | 4/12 |
12-111884608-T-C | SH2B3 | c.784T>C | p.Trp262Arg | Missense | 3/8 | - |
12-111884608-T-A | SH2B3 | c.784T>A | p.Trp262Arg | Missense | 3/8 | - |
10-114808902-G-A | TCF7L2 | c.483+9017G>A | - | IntronicSNV | - | 4/13 |
19-9952743-G-A | PIN1 | c.271+3419G>A | - | IntronicSNV | - | 2/3 |
4-23815793-A-G | PPARGC1A | c.1313T>C | p.Leu438Ser | Missense | 8/13 | - |
6-151199071-A-G | MTHFD1L | c.417+109A>G | - | IntronicSNV | - | 4/27 |
19-1049012-A-C | ABCA7 | c.2380+8A>C | - | IntronicSNV | - | 17/46 |
8-27467686-C-T | CLU | c.97+306G>A | - | IntronicSNV | - | 2/8 |
21-45668171-G-T | DNMT3L | c.995+738C>A | - | IntronicSNV | - | 11/11 |
16-68398432-C-T | SMPD3 | c.1555+222G>A | - | IntronicSNV | - | 5/8 |
2-127830299-C-T | BIN1 | c.166-1907G>A | - | IntronicSNV | - | 2/18 |
2-127826533-A-G | BIN1 | c.486T>C | p.Thr162Thr | Synonymous | 6/19 | - |
22-46641598-G-A | CDPF1 | c.226-463C>T | - | IntronicSNV | - | 3/3 |
10-114808902-G-T | TCF7L2 | c.483+9017G>T | - | IntronicSNV | - | 4/13 |
11-36125752-G-T | LDLRAD3 | c.454+5741G>T | - | IntronicSNV | - | 4/5 |
7-143087432-G-A | ZYX | c.1615-239G>A | - | IntronicSNV | - | 9/9 |
16-46703283-G-T | VPS35 | c.1525-319C>A | - | IntronicSNV | - | 12/16 |
7-22768249-G-T | IL6 | c.211-63G>T | - | IntronicSNV | - | 2/4 |
11-36190543-G-A | LDLRAD3 | c.455-58092G>A | - | IntronicSNV | - | 4/5 |
19-45728123-C-T | EXOC3L2 | c.453G>A | p.Pro151Pro | Synonymous | 6/10 | - |
9-114695826-T-A | UGCG | c.*549T>A | - | IntergenicSNV | 9/9 | - |
10-88053082-A-T | GRID1 | c.235+70616T>A | - | IntronicSNV | - | 2/15 |
11-85686096-T-A | PICALM | c.1840-241A>T | - | IntronicSNV | - | 18/19 |
6-47548323-T-C | CD2AP | c.1009-277T>C | - | IntronicSNV | - | 9/17 |
3-46007802-A-T | FYCO1 | c.3024T>A | p.Ser1008Arg | Missense | 8/18 | - |
2-68409037-G-T | PPP3R1 | c.466-895C>A | - | IntronicSNV | - | 5/5 |
10-20506418-G-A | PLXDC2 | c.1186G>A | p.Val396Ile | Missense | 11/14 | - |
6-11191434-T-C | NEDD9 | c.668A>G | p.Tyr223Cys | Missense | 5/7 | - |
2-68409037-G-A | PPP3R1 | c.466-895C>T | - | IntronicSNV | - | 5/5 |
3-46003762-T-G | FYCO1 | c.3392A>C | p.Asn1131Thr | Missense | 11/18 | - |
19-45403412-C-T | TOMM40 | c.644-575C>T | - | IntronicSNV | - | 6/9 |
11-36163555-C-T | LDLRAD3 | c.454+43544C>T | - | IntronicSNV | - | 4/5 |
16-68411283-C-G | SMPD3 | c.1-5199G>C | - | IntronicSNV | - | 1/8 |
8-143955097-C-T | CYP11B1 | c.*692G>A | - | 3-UTRSNV | 9/9 | - |
11-77975081-A-G | GAB2 | c.377-13635T>C | - | IntronicSNV | - | 2/9 |
3-46003762-T-C | FYCO1 | c.3392A>G | p.Asn1131Ser | Missense | 11/18 | - |
1-11190646-G-C | MTOR | c.5553C>G | p.Ser1851Arg | Missense | 39/58 | - |
2-169401278-C-T | CERS6 | c.171-2828C>T | - | IntronicSNV | - | 1/9 |
6-28250236-C-T | PGBD1 | c.-59+541C>T | - | intron_variant | - | 1/6 |
3-12335081-G-A | PPARG | c.-3+5562G>A | - | intron_variant | - | 1/6 |
19-45324516-C-T | BCAM | c.*338C>T | - | 3-UTRSNV | 15/15 | - |
10-73605853-G-C | PSAP | c.40+5086C>G | - | IntronicSNV | - | 1/13 |
11-27680107-G-T | BDNF | c.5C>A | p.Thr2Asn | Missense | 1/1 | - |
1-115837709-A-T | NGF | c.-136-1338T>A | - | intron_variant | - | 1/2 |
11-27680107-G-A | BDNF | c.5C>T | p.Thr2Ile | Missense | 1/1 | - |
10-52007969-G-A | ASAH2 | c.127+275C>T | - | IntronicSNV | - | 1/19 |
11-36025118-G-A | LDLRAD3 | c.47-32535G>A | - | IntronicSNV | - | 1/5 |
16-68468658-C-G | SMPD3 | c.-269+13598G>C | - | intron_variant | - | 1/8 |
17-42425313-G-A | GRN | c.1-1220G>A | - | IntronicSNV | - | 1/12 |
15-51520206-T-C | CYP19A1 | c.297-76A>G | - | IntronicSNV | - | 3/9 |
1-211748118-C-T | SLC30A1 | c.*612G>A | - | IntergenicSNV | 2/2 | - |
17-61574215-C-T | ACE | c.3560C>T | p.Thr1187Met | Missense | 24/25 | - |
10-104595420-T-G | CYP17A1 | c.298-271A>C | - | IntronicSNV | - | 1/7 |
16-87434125-T-G | MAP1LC3B | c.96+1649T>G | - | IntronicSNV | - | 2/3 |
19-1051214-A-G | ABCA7 | c.2745A>G | p.Val915Val | Synonymous | 20/47 | - |
19-9955341-T-C | PIN1 | c.272-3365T>C | - | IntronicSNV | - | 2/3 |
13-33628138-T-G | KL | c.1054T>G | p.Phe352Val | Missense | 2/5 | - |
2-25491056-A-G | DNMT3A | c.639+6754T>C | - | IntronicSNV | - | 6/22 |
14-88409527-G-A | GALC | c.1671-1625C>T | - | IntronicSNV | - | 14/16 |
14-64862555-A-G | MTHFD1 | c.42-4956A>G | - | IntronicSNV | - | 1/27 |
19-45405062-A-T | TOMM40 | c.946+495A>T | - | IntronicSNV | - | 9/9 |
13-33627760-A-G | KL | c.820-144A>G | - | IntronicSNV | - | 1/4 |
X-38226603-A-G | OTC | c.137A>G | p.Lys46Arg | Missense | 2/10 | - |
10-88029586-C-T | GRID1 | c.236-63181G>A | - | IntronicSNV | - | 2/15 |
1-120050463-A-G | HSD3B1 | c.145+219A>G | - | IntronicSNV | - | 2/3 |
2-31782280-A-G | SRD5A2 | c.278+23410T>C | - | intron_variant | - | 2/5 |
19-1047002-A-G | ABCA7 | c.1824A>G | p.Ala608Ala | Synonymous | 14/47 | - |
2-25485735-C-T | DNMT3A | c.639+12075G>A | - | IntronicSNV | - | 6/22 |
5-167845791-C-T | WWC1 | c.1185-3222C>T | - | IntronicSNV | - | 9/22 |
1-162770647-A-G | HSD17B7 | c.642+920A>G | - | IntronicSNV | - | 5/8 |
17-42427630-T-C | GRN | c.384T>C | p.Asp128Asp | Synonymous | 5/13 | - |
2-68477948-T-C | PPP3R1 | c.3+1309A>G | - | IntronicSNV | - | 1/5 |
11-121349111-A-G | SORL1 | c.528+159A>G | - | IntronicSNV | - | 3/47 |
3-46007969-C-A | FYCO1 | c.2857G>T | p.Gly953Trp | Missense | 8/18 | - |
X-91579524-A-T | PCDH11X | c.3115-63210A>T | - | IntronicSNV | - | 3/5 |
1-156818647-T-G | INSRR | c.1571+66A>C | - | IntronicSNV | - | 7/21 |
3-46007846-C-T | FYCO1 | c.2980G>A | p.Glu994Lys | Missense | 8/18 | - |
19-10268974-G-T | DNMT1 | c.1232+1360C>A | - | IntronicSNV | - | 16/39 |
1-119960376-G-T | HSD3B2 | c.143-1665G>T | - | IntronicSNV | - | 2/3 |
11-219089-T-C | SIRT3 | c.544-48A>G | - | IntronicSNV | - | 5/6 |
20-31376995-C-T | DNMT3B | c.813+177C>T | - | IntronicSNV | - | 7/22 |
11-85716032-T-A | PICALM | c.808-1538A>T | - | IntronicSNV | - | 8/19 |
1-120050463-A-T | HSD3B1 | c.145+219A>T | - | IntronicSNV | - | 2/3 |
11-224832-T-C | SIRT3 | c.382-593A>G | - | IntronicSNV | - | 4/6 |
2-113590390-G-A | IL1B | c.315C>T | p.Phe105Phe | Synonymous | 5/7 | - |
13-33590971-C-T | KL | c.393C>T | p.Asn131Asn | Synonymous | 1/5 | - |
13-33590971-C-A | KL | c.393C>A | p.Asn131Lys | Missense | 1/5 | - |
4-164270253-C-A | NPY5R | c.1-1173C>A | - | IntronicSNV | - | 3/3 |
1-11288758-G-T | MTOR | c.2997C>A | p.Asn999Lys | Missense | 19/58 | - |
6-28263721-T-G | PGBD1 | c.643-872T>G | - | IntronicSNV | - | 4/6 |
17-47587712-G-T | NGFR | c.569-62G>T | - | IntronicSNV | - | 3/5 |
11-73716277-G-A | UCP3 | c.541+498C>T | - | IntronicSNV | - | 4/6 |
17-7293715-C-T | PLSCR3 | c.877G>A | p.Val293Ile | Missense | 8/8 | - |
16-46727058-C-T | ORC6 | c.413C>T | p.Pro138Leu | Missense | 4/7 | - |
16-46727058-C-A | ORC6 | c.413C>A | p.Pro138Gln | Missense | 4/7 | - |
17-40958821-C-A | CNTD1 | c.710C>A | p.Pro237His | Missense | 5/7 | - |
10-75249611-C-T | PPP3CB | c.85+5952G>A | - | IntronicSNV | - | 1/13 |
19-33687750-C-T | LRP3 | c.121+67C>T | - | IntronicSNV | - | 2/6 |
16-46694103-G-T | VPS35 | c.*281C>A | - | 3-UTRSNV | 17/17 | - |
9-99031628-G-A | HSD17B3 | c.202-14403C>T | - | IntronicSNV | - | 2/10 |
16-68435906-G-A | SMPD3 | c.-268-15344C>T | - | intron_variant | - | 1/8 |
11-78164984-T-G | NARS2 | c.1165-10180A>C | - | IntronicSNV | - | 11/13 |
7-22767871-T-C | IL6 | c.211-441T>C | - | IntronicSNV | - | 2/4 |
17-44076063-C-T | MAPT | c.1773+2033C>T | - | IntronicSNV | - | 10/13 |
12-57578288-C-T | LRP1 | c.6186+53C>T | - | IntronicSNV | - | 38/88 |
10-52108830-C-T | SGMS1 | c.1-4956G>A | - | IntronicSNV | - | 6/10 |
9-114662783-C-A | UGCG | c.98+3190C>A | - | IntronicSNV | - | 1/8 |
10-52338100-A-G | SGMS1 | c.-589+11813T>C | - | intron_variant | - | 2/10 |
17-40971770-C-T | BECN1 | c.198-143G>A | - | intron_variant | - | 3/11 |
6-109752451-T-C | PPIL6 | c.329A>G | p.His110Arg | Missense | 3/9 | - |
19-288246-T-C | PLPP2 | c.53-75A>G | - | IntronicSNV | - | 1/5 |
21-45675877-G-T | DNMT3L | c.604+73C>A | - | IntronicSNV | - | 7/11 |
11-73691774-T-C | UCP2 | c.-100+747A>G | - | intron_variant | - | 2/7 |
2-31805706-G-A | SRD5A2 | c.262C>T | - | synonymous_variant | 2/6 | - |
8-143994266-A-C | CYP11B2 | c.1157T>G | p.Val386Gly | Missense | 7/9 | - |
8-143994266-A-G | CYP11B2 | c.1157T>C | p.Val386Ala | Missense | 7/9 | - |
8-27467686-C-G | CLU | c.97+306G>C | - | IntronicSNV | - | 2/8 |
2-31805706-G-T | SRD5A2 | c.262C>A | - | missense_variant | 2/6 | - |
8-27463618-C-T | CLU | c.417+253G>A | - | IntronicSNV | - | 4/8 |
7-24324879-T-C | NPY | c.20T>C | p.Leu7Pro | Missense | 2/4 | - |
11-61731977-G-C | FTH1 | c.*222C>G | - | 3-UTRSNV | 4/4 | - |
12-111884608-T-G | SH2B3 | c.784T>G | p.Trp262Gly | Missense | 3/8 | - |
21-45674095-T-C | DNMT3L | c.693+405A>G | - | IntronicSNV | - | 8/11 |
11-121406708-T-C | SORL1 | c.1685+3447T>C | - | IntronicSNV | - | 12/47 |
21-45679090-C-T | DNMT3L | c.344+230G>A | - | IntronicSNV | - | 5/11 |
3-45960420-G-C | FYCO1 | c.*2837C>G | - | 3-UTRSNV | 18/18 | - |
2-31805706-G-C | SRD5A2 | c.262C>G | - | missense_variant | 2/6 | - |
10-52345974-G-A | SGMS1 | c.-589+3939C>T | - | intron_variant | - | 2/10 |
15-51510702-T-A | CYP19A1 | c.743+36A>T | - | IntronicSNV | - | 6/9 |
6-109767930-G-A | MICAL1 | c.2273C>T | p.Ala758Val | Missense | 18/25 | - |
13-33596189-A-T | KL | c.819+4792A>T | - | IntronicSNV | - | 1/4 |
12-57602815-C-G | LRP1 | c.12146-51C>G | - | IntronicSNV | - | 78/88 |
X-91431385-C-T | PCDH11X | c.3034-24989C>T | - | IntronicSNV | - | 2/5 |
19-51728477-C-T | CD33 | c.41C>T | p.Ala14Val | Missense | 2/7 | - |
19-51728477-C-G | CD33 | c.41C>G | p.Ala14Gly | Missense | 2/7 | - |
19-11241915-A-G | LDLR | c.2548-42A>G | - | IntronicSNV | - | 17/17 |
22-46614170-G-T | PPARA | c.380G>T | p.Arg127Leu | Missense | 5/8 | - |
8-143954769-G-T | CYP11B1 | c.*1020C>A | - | 3-UTRSNV | 9/9 | - |
17-42430244-C-T | GRN | c.*78C>T | - | 3-UTRSNV | 13/13 | - |
19-51728641-A-G | CD33 | c.205A>G | p.Arg69Gly | Missense | 2/7 | - |
19-49468642-G-A | FTL | c.1-123G>A | - | 5-UTRSNV | 1/4 | - |
3-133485454-A-G | TF | c.1486+177A>G | - | IntronicSNV | - | 12/16 |
2-25472784-C-T | DNMT3A | c.640-1663G>A | - | IntronicSNV | - | 6/22 |
11-85681916-A-G | PICALM | c.1944+3835T>C | - | IntronicSNV | - | 19/19 |
3-12334416-T-C | PPARG | c.-3+4897T>C | - | intron_variant | - | 1/6 |
12-13999379-G-C | GRIN2B | c.411+19353C>G | - | IntronicSNV | - | 2/12 |
1-222823529-A-T | MIA3 | c.3632-105A>T | - | IntronicSNV | - | 8/27 |
1-222823529-A-G | MIA3 | c.3632-105A>G | - | IntronicSNV | - | 8/27 |
1-56963026-C-T | PLPP3 | c.811-678G>A | - | IntronicSNV | - | 5/5 |
1-156106185-T-G | LMNA | c.1338T>G | p.Asp446Glu | Missense | 7/12 | - |
1-156106185-T-A | LMNA | c.1338T>A | p.Asp446Glu | Missense | 7/12 | - |
1-156106185-T-C | LMNA | c.1338T>C | p.Asp446Asp | Synonymous | 7/12 | - |
19-45451620-T-A | APOC2 | c.1-116T>A | - | IntronicSNV | - | 1/3 |
14-88446876-A-C | GALC | c.621+1673T>G | - | IntronicSNV | - | 6/16 |
1-115857251-G-A | NGF | c.-136-20880C>T | - | intron_variant | - | 1/2 |
X-91402220-T-A | PCDH11X | c.3034-54154T>A | - | IntronicSNV | - | 2/5 |
9-114695826-T-C | UGCG | c.*549T>C | - | IntergenicSNV | 9/9 | - |
X-91402220-T-C | PCDH11X | c.3034-54154T>C | - | IntronicSNV | - | 2/5 |
6-109758678-C-T | PPIL6 | c.136-1276G>A | - | IntronicSNV | - | 1/8 |
10-52322047-T-C | SGMS1 | c.-589+27866A>G | - | intron_variant | - | 2/10 |
10-52065890-T-C | SGMS1 | c.*1012A>G | - | 3-UTRSNV | 11/11 | - |
10-94414263-A-C | KIF11 | c.*710A>C | - | 3-UTRSNV | 22/22 | - |
7-100235970-C-A | TFR2 | c.473+2339G>T | - | IntronicSNV | - | 3/17 |
9-87360153-G-A | NTRK2 | c.1296+165G>A | - | IntronicSNV | - | 13/14 |
19-11242765-A-G | LDLR | c.*773A>G | - | 3-UTRSNV | 18/18 | - |
11-121371120-G-A | SORL1 | c.939+3362G>A | - | IntronicSNV | - | 6/47 |
17-42045949-G-A | PYY | c.1-15098C>T | - | IntronicSNV | - | 1/6 |
1-11288758-G-A | MTOR | c.2997C>T | p.Asn999Asn | Synonymous | 19/58 | - |
13-33628138-T-A | KL | c.1054T>A | p.Phe352Ile | Missense | 2/5 | - |
7-24330765-A-C | NPY | c.270-517A>C | - | IntronicSNV | - | 3/3 |
1-101204495-C-A | VCAM1 | c.*656C>A | - | 3-UTRSNV | 9/9 | - |
22-46615376-G-A | PPARA | c.509-333G>A | - | IntronicSNV | - | 5/7 |
9-6254208-C-T | IL33 | c.521-254C>T | - | IntronicSNV | - | 6/7 |
14-64908845-G-A | MTHFD1 | c.1958G>A | p.Arg653Gln | Missense | 20/28 | - |
8-143955097-C-A | CYP11B1 | c.*692G>T | - | 3-UTRSNV | 9/9 | - |
11-35968743-T-C | LDLRAD3 | c.46+3049T>C | - | IntronicSNV | - | 1/5 |
10-52133594-A-G | SGMS1 | c.1-29720T>C | - | IntronicSNV | - | 6/10 |
19-49136515-T-C | DBP | c.762+186A>G | - | IntronicSNV | - | 3/3 |
7-143103217-G-A | EPHA1 | c.150+1487C>T | - | IntronicSNV | - | 2/17 |
17-40957755-A-C | CNTD1 | c.433A>C | p.Thr145Pro | Missense | 4/7 | - |
X-38265039-C-T | OTC | c.663+2046C>T | - | IntronicSNV | - | 6/9 |
19-10340912-A-C | S1PR2 | c.-43+968T>G | - | intron_variant | - | 1/1 |
8-27464519-T-C | CLU | c.247-478A>G | - | IntronicSNV | - | 3/8 |
3-45962603-A-G | FYCO1 | c.*654T>C | - | 3-UTRSNV | 18/18 | - |
13-33630055-C-T | KL | c.1599+603C>T | - | IntronicSNV | - | 3/4 |
11-36185448-C-T | LDLRAD3 | c.455-63187C>T | - | IntronicSNV | - | 4/5 |
4-23815522-C-G | PPARGC1A | c.1584G>C | p.Thr528Thr | Synonymous | 8/13 | - |
4-23815522-C-T | PPARGC1A | c.1584G>A | p.Thr528Thr | Synonymous | 8/13 | - |
1-156848946-G-T | NTRK1 | c.1838G>T | p.Gly613Val | Missense | 15/17 | - |
19-10394792-G-A | ICAM1 | c.721G>A | p.Gly241Arg | Missense | 4/7 | - |
8-17922414-A-T | ASAH1 | c.431-374T>A | - | IntronicSNV | - | 5/13 |
13-33596189-A-G | KL | c.819+4792A>G | - | IntronicSNV | - | 1/4 |
17-44054696-G-A | MAPT | c.308-1045G>A | - | IntronicSNV | - | 4/13 |
19-11242044-G-A | LDLR | c.*52G>A | - | 3-UTRSNV | 18/18 | - |
19-8321946-T-G | CERS4 | c.726T>G | p.Ser242Ser | Synonymous | 9/12 | - |
19-45395619-A-G | TOMM40 | c.275-31A>G | - | IntronicSNV | - | 2/9 |
19-8321946-T-C | CERS4 | c.726T>C | p.Ser242Ser | Synonymous | 9/12 | - |
7-24329133-C-T | NPY | c.204C>T | p.Ser68Ser | Synonymous | 3/4 | - |
10-52301422-G-C | SGMS1 | c.-588-21741C>G | - | intron_variant | - | 2/10 |
10-52301422-G-A | SGMS1 | c.-588-21741C>T | - | intron_variant | - | 2/10 |
19-45448465-T-A | APOC4 | c.287T>A | p.Leu96His | Missense | 3/3 | - |
1-207772154-T-C | CR1 | c.4461-8442T>C | - | IntronicSNV | - | 27/38 |
19-19011244-T-C | COPE | c.750A>G | p.Pro250Pro | Synonymous | 8/10 | - |
19-19011244-T-G | COPE | c.750A>C | p.Pro250Pro | Synonymous | 8/10 | - |
10-88069416-G-A | GRID1 | c.235+54282C>T | - | IntronicSNV | - | 2/15 |
16-46731413-T-C | ORC6 | c.675T>C | p.Asp225Asp | Synonymous | 7/7 | - |
17-47591035-C-T | NGFR | c.*664C>T | - | 3-UTRSNV | 6/6 | - |
4-23795064-C-T | PPARGC1A | c.*2381G>A | - | 3-UTRSNV | 13/13 | - |
13-33631731-C-T | KL | c.1599+2279C>T | - | IntronicSNV | - | 3/4 |
1-11867180-T-G | CLCN6 | c.88-8T>G | - | IntronicSNV | - | 1/22 |
15-101002255-G-A | CERS3 | c.846-6004C>T | - | IntronicSNV | - | 11/12 |
11-36044370-C-A | LDLRAD3 | c.47-13283C>A | - | IntronicSNV | - | 1/5 |
10-73585526-A-G | PSAP | c.777+68T>C | - | IntronicSNV | - | 7/13 |
10-52002800-T-C | ASAH2 | c.510+162A>G | - | IntronicSNV | - | 3/19 |
10-52120612-A-G | SGMS1 | c.1-16738T>C | - | IntronicSNV | - | 6/10 |
3-133484830-T-C | TF | c.1331-292T>C | - | IntronicSNV | - | 11/16 |
16-68432601-T-C | SMPD3 | c.1-26517A>G | - | IntronicSNV | - | 1/8 |
8-143956693-G-A | CYP11B1 | c.1157C>T | p.Ala386Val | Missense | 7/9 | - |
8-143956693-G-T | CYP11B1 | c.1157C>A | p.Ala386Glu | Missense | 7/9 | - |
17-7292107-G-A | TNK1 | c.1777G>A | p.Val593Met | Missense | 12/13 | - |
10-60148692-A-T | TFAM | c.441+113A>T | - | IntronicSNV | - | 4/6 |
10-94398118-A-G | KIF11 | c.2160+816A>G | - | IntronicSNV | - | 16/21 |
11-121493001-T-G | SORL1 | c.6171+24T>G | - | IntronicSNV | - | 45/47 |
2-25550995-G-A | DNMT3A | c.-178+13700C>T | - | intron_variant | - | 1/22 |
9-87342727-A-T | NTRK2 | c.1012A>T | p.Asn338Tyr | Missense | 11/15 | - |
16-67469733-C-A | HSD11B2 | c.468C>A | p.Thr156Thr | Synonymous | 2/5 | - |
10-108923704-A-G | SORCS1 | c.558+23T>C | - | IntronicSNV | - | 1/25 |
8-17934029-T-C | ASAH1 | c.127-933A>G | - | IntronicSNV | - | 1/13 |
10-52285511-A-G | SGMS1 | c.-588-5830T>C | - | intron_variant | - | 2/10 |
14-104137643-A-G | KLC1 | c.987+1023A>G | - | IntronicSNV | - | 7/14 |
3-12334991-G-A | PPARG | c.-3+5472G>A | - | intron_variant | - | 1/6 |
19-45716678-G-C | EXOC3L2 | c.942-63C>G | - | IntronicSNV | - | 9/9 |
10-94272864-C-T | IDE | c.784+1813G>A | - | IntronicSNV | - | 5/24 |
9-114682337-G-A | UGCG | c.241-2792G>A | - | IntronicSNV | - | 2/8 |
17-47591703-T-C | NGFR | c.*1332T>C | - | 3-UTRSNV | 6/6 | - |
17-44054433-A-G | MAPT | c.308-1308A>G | - | IntronicSNV | - | 4/13 |
19-45480037-A-G | CLPTM1 | c.469-563A>G | - | IntronicSNV | - | 4/13 |
7-24330191-C-G | NPY | c.269+993C>G | - | IntronicSNV | - | 3/3 |
7-24330191-C-T | NPY | c.269+993C>T | - | IntronicSNV | - | 3/3 |
11-36513786-C-T | TRAF6 | c.756+315G>A | - | IntronicSNV | - | 7/7 |
10-52359689-G-T | SGMS1 | c.-683-9682C>A | - | intron_variant | - | 1/10 |
4-23817027-A-G | PPARGC1A | c.878-799T>C | - | IntronicSNV | - | 7/12 |
4-23817027-A-C | PPARGC1A | c.878-799T>G | - | IntronicSNV | - | 7/12 |
8-27466315-T-C | CLU | c.246+140A>G | - | IntronicSNV | - | 3/8 |
6-32006337-C-A | CYP21A2 | c.138C>A | p.Pro46Pro | Synonymous | 1/10 | - |
1-101194205-C-A | VCAM1 | c.929-458C>A | - | IntronicSNV | - | 4/8 |
1-101194205-C-T | VCAM1 | c.929-458C>T | - | IntronicSNV | - | 4/8 |
1-207808450-G-A | CR1 | c.6108-4292G>A | - | IntronicSNV | - | 38/38 |
14-74952538-A-G | NPC2 | c.190+494T>C | - | IntronicSNV | - | 2/4 |
10-105213765-G-A | CALHM1 | c.*1254C>T | - | 3-UTRSNV | 2/2 | - |
3-133466588-A-G | TF | c.44-668A>G | - | IntronicSNV | - | 1/16 |
20-44540692-C-G | PLTP | c.-12+26G>C | - | intron_variant | - | 1/15 |
19-11238975-C-T | LDLR | c.2389+214C>T | - | IntronicSNV | - | 16/17 |
15-51547938-C-G | CYP19A1 | c.1-12829G>C | - | IntronicSNV | - | 1/9 |
6-30609629-A-G | ATAT1 | c.653-324A>G | - | IntronicSNV | - | 8/10 |
6-30609629-A-C | ATAT1 | c.653-324A>C | - | IntronicSNV | - | 8/10 |
6-30609629-A-T | ATAT1 | c.653-324A>T | - | IntronicSNV | - | 8/10 |
11-73711477-A-T | UCP3 | c.*980T>A | - | 3-UTRSNV | 7/7 | - |
11-73711477-A-G | UCP3 | c.*980T>C | - | 3-UTRSNV | 7/7 | - |
19-8311020-G-C | CERS4 | c.1-4941G>C | - | IntronicSNV | - | 2/11 |
3-12442731-A-G | PPARG | c.536-4650A>G | - | IntronicSNV | - | 4/6 |
8-143955657-A-G | CYP11B1 | c.*132T>C | - | 3-UTRSNV | 9/9 | - |
2-217524986-A-C | IGFBP2 | c.443-294A>C | - | IntronicSNV | - | 1/3 |
19-1053299-C-G | ABCA7 | c.3221-29C>G | - | IntronicSNV | - | 23/46 |
19-1053299-C-T | ABCA7 | c.3221-29C>T | - | IntronicSNV | - | 23/46 |
3-154801365-T-C | MME | c.1-592T>C | - | IntronicSNV | - | 1/22 |
3-154801365-T-A | MME | c.1-592T>A | - | IntronicSNV | - | 1/22 |
11-36104536-G-A | LDLRAD3 | c.319+1208G>A | - | IntronicSNV | - | 3/5 |
11-36104536-G-T | LDLRAD3 | c.319+1208G>T | - | IntronicSNV | - | 3/5 |
9-98997810-C-G | HSD17B3 | c.865G>C | p.Gly289Arg | Missense | 11/11 | - |
9-98997810-C-A | HSD17B3 | c.865G>T | p.Gly289Cys | Missense | 11/11 | - |
10-52360613-C-T | SGMS1 | c.-683-10606G>A | - | intron_variant | - | 1/10 |
21-45669629-G-A | DNMT3L | c.910-635C>T | - | IntronicSNV | - | 10/11 |
20-44540692-C-A | PLTP | c.-12+26G>T | - | intron_variant | - | 1/15 |
1-11854896-G-A | MTHFR | c.1056C>T | p.Ser352Ser | Synonymous | 7/12 | - |
21-45670770-T-C | DNMT3L | c.832A>G | p.Arg278Gly | Missense | 10/12 | - |
17-42030531-G-C | PYY | c.215C>G | p.Thr72Arg | Missense | 6/7 | - |
14-64174022-C-T | SGPP1 | c.685-8646G>A | - | IntronicSNV | - | 1/2 |
9-98997810-C-T | HSD17B3 | c.865G>A | p.Gly289Ser | Missense | 11/11 | - |
9-114681583-C-A | UGCG | c.241-3546C>A | - | IntronicSNV | - | 2/8 |
6-109764535-G-A | SMPD2 | c.795G>A | p.Arg265Arg | Synonymous | 9/10 | - |
3-133466155-C-T | TF | c.43+828C>T | - | IntronicSNV | - | 1/16 |
11-121414476-G-A | SORL1 | c.1864+41G>A | - | IntronicSNV | - | 13/47 |
19-45447161-T-C | APOC4 | c.77-845T>C | - | IntronicSNV | - | 1/2 |
19-45402477-C-T | TOMM40 | c.644-1510C>T | - | IntronicSNV | - | 6/9 |
11-36051537-A-G | LDLRAD3 | c.47-6116A>G | - | IntronicSNV | - | 1/5 |
14-100384232-A-T | EML1 | c.1877+46A>T | - | IntronicSNV | - | 17/22 |
16-87436463-T-G | MAP1LC3B | c.204-66T>G | - | IntronicSNV | - | 3/3 |
16-87436463-T-C | MAP1LC3B | c.204-66T>C | - | IntronicSNV | - | 3/3 |
22-46581385-C-A | PPARA | c.1-12896C>A | - | IntronicSNV | - | 2/7 |
22-46591554-A-G | PPARA | c.1-2727A>G | - | IntronicSNV | - | 2/7 |
X-38272193-T-C | OTC | c.1005+941T>C | - | IntronicSNV | - | 9/9 |
14-53400629-T-C | FERMT2 | c.158-14555A>G | - | IntronicSNV | - | 2/14 |
11-36153721-A-C | LDLRAD3 | c.454+33710A>C | - | IntronicSNV | - | 4/5 |
17-42032677-G-A | PYY | c.1-1826C>T | - | IntronicSNV | - | 3/6 |
11-61734028-C-G | FTH1 | c.114+756G>C | - | IntronicSNV | - | 1/3 |
11-61734028-C-A | FTH1 | c.114+756G>T | - | IntronicSNV | - | 1/3 |
10-108512080-C-G | SORCS1 | c.959+9266G>C | - | IntronicSNV | - | 5/25 |
11-61734028-C-T | FTH1 | c.114+756G>A | - | IntronicSNV | - | 1/3 |
2-127839781-C-A | BIN1 | c.85-5499G>T | - | IntronicSNV | - | 1/18 |
2-127839781-C-T | BIN1 | c.85-5499G>A | - | IntronicSNV | - | 1/18 |
10-108512080-C-A | SORCS1 | c.959+9266G>T | - | IntronicSNV | - | 5/25 |
22-46630634-G-T | PPARA | c.1160-396G>T | - | IntronicSNV | - | 7/7 |
X-38250780-C-G | OTC | c.387-9748C>G | - | IntronicSNV | - | 4/9 |
20-31350664-C-A | DNMT3B | c.-7+159C>A | - | intron_variant | - | 1/22 |
20-31350664-C-G | DNMT3B | c.-7+159C>G | - | intron_variant | - | 1/22 |
22-46614274-C-G | PPARA | c.484C>G | p.Leu162Val | Missense | 5/8 | - |
10-75249611-C-A | PPP3CB | c.85+5952G>T | - | IntronicSNV | - | 1/13 |
19-49942568-C-G | SLC17A7 | c.62+2007G>C | - | IntronicSNV | - | 1/11 |
9-114694486-A-G | UGCG | c.861A>G | p.Thr287Thr | Synonymous | 8/9 | - |
22-31011610-G-C | TCN2 | c.776G>C | p.Arg259Pro | Missense | 6/9 | - |
22-46631660-A-G | PPARA | c.*383A>G | - | 3-UTRSNV | 8/8 | - |
22-31011610-G-A | TCN2 | c.776G>A | p.Arg259His | Missense | 6/9 | - |
2-25496840-T-C | DNMT3A | c.639+970A>G | - | IntronicSNV | - | 6/22 |
17-43986179-G-A | MAPT | c.-18+14127G>A | - | intron_variant | - | 1/13 |
10-52119046-A-G | SGMS1 | c.1-15172T>C | - | IntronicSNV | - | 6/10 |
19-49935536-G-C | SLC17A7 | c.1150+240C>G | - | IntronicSNV | - | 9/11 |
3-133479200-G-C | TF | c.1203+1027G>C | - | IntronicSNV | - | 9/16 |
10-47087371-G-A | NPY4R | c.588G>A | p.Ala196Ala | Synonymous | 3/3 | - |
16-68476756-G-A | SMPD3 | c.-269+5500C>T | - | intron_variant | - | 1/8 |
4-164271199-T-C | NPY5R | c.1-227T>C | - | IntronicSNV | - | 1/3 |
10-72614421-T-C | SGPL1 | c.262-44T>C | - | IntronicSNV | - | 4/14 |
10-72614421-T-G | SGPL1 | c.262-44T>G | - | IntronicSNV | - | 4/14 |
3-45989519-T-C | CXCR6 | c.*517T>C | - | 3-UTRSNV | 2/2 | - |
19-1063443-A-C | ABCA7 | c.5713-100A>C | - | IntronicSNV | - | 42/46 |
19-1063443-A-G | ABCA7 | c.5713-100A>G | - | IntronicSNV | - | 42/46 |
13-33598987-A-G | KL | c.819+7590A>G | - | IntronicSNV | - | 1/4 |
13-33598987-A-C | KL | c.819+7590A>C | - | IntronicSNV | - | 1/4 |
8-27470140-G-T | CLU | c.1-2052C>A | - | IntronicSNV | - | 1/8 |
16-68411283-C-A | SMPD3 | c.1-5199G>T | - | IntronicSNV | - | 1/8 |
22-19950263-G-T | COMT | c.214G>T | p.Ala72Ser | Missense | 3/6 | - |
16-72089740-A-G | HP | c.6-320A>G | - | IntronicSNV | - | 1/6 |
12-50543422-T-C | CERS5 | c.198-5582A>G | - | IntronicSNV | - | 1/9 |
10-52083060-A-G | SGMS1 | c.741+3905T>C | - | IntronicSNV | - | 8/10 |
11-78091150-C-A | GAB2 | c.75+37542G>T | - | IntronicSNV | - | 1/9 |
6-28227633-C-T | NKAPL | c.484C>T | p.His162Tyr | Missense | 1/1 | - |
11-78045071-G-C | GAB2 | c.76-53124C>G | - | IntronicSNV | - | 1/9 |
11-36121014-A-G | LDLRAD3 | c.454+1003A>G | - | IntronicSNV | - | 4/5 |
1-101187219-A-G | VCAM1 | c.340+912A>G | - | IntronicSNV | - | 2/8 |
6-151215594-A-G | MTHFD1L | c.780+6477A>G | - | IntronicSNV | - | 7/27 |
6-151215594-A-C | MTHFD1L | c.780+6477A>C | - | IntronicSNV | - | 7/27 |
6-151197152-C-G | MTHFD1L | c.228-74C>G | - | IntronicSNV | - | 1/27 |
16-46718724-G-A | VPS35 | c.4-1206C>T | - | IntronicSNV | - | 1/16 |
3-195800811-C-T | TFRC | c.424G>A | p.Gly142Ser | Missense | 4/19 | - |
8-27460185-G-A | CLU | c.934+1623C>T | - | IntronicSNV | - | 6/8 |
15-101064527-C-T | CERS3 | c.-91-2566G>A | - | intron_variant | - | 2/12 |
19-10273372-T-C | DNMT1 | c.931A>G | p.Ile311Val | Missense | 12/40 | - |
19-10273372-T-A | DNMT1 | c.931A>T | p.Ile311Phe | Missense | 12/40 | - |
19-10273372-T-G | DNMT1 | c.931A>C | p.Ile311Leu | Missense | 12/40 | - |
11-36246782-A-G | LDLRAD3 | c.455-1853A>G | - | IntronicSNV | - | 4/5 |
11-85751883-A-G | PICALM | c.131-9230T>C | - | IntronicSNV | - | 1/19 |
X-91523596-A-G | PCDH11X | c.3114+67142A>G | - | IntronicSNV | - | 3/5 |
18-21142992-A-T | NPC1 | c.464-1501T>A | - | IntronicSNV | - | 4/24 |
21-45673649-T-C | DNMT3L | c.693+851A>G | - | IntronicSNV | - | 8/11 |
7-143099107-T-G | EPHA1 | c.151-409A>C | - | IntronicSNV | - | 2/17 |
19-51737991-T-G | CD33 | c.746-421T>G | - | IntronicSNV | - | 4/6 |
6-109762236-G-A | PPIL6 | c.1-443C>T | - | 5-UTRSNV | 1/9 | - |
17-47581150-C-A | NGFR | c.208+1584C>A | - | IntronicSNV | - | 2/5 |
6-109765818-C-G | MICAL1 | c.3055+110G>C | - | IntronicSNV | - | 24/24 |
10-73594499-G-A | PSAP | c.41-237C>T | - | IntronicSNV | - | 1/13 |
2-217514772-G-T | IGFBP2 | c.443-10508G>T | - | IntronicSNV | - | 1/3 |
2-25559934-T-C | DNMT3A | c.-178+4761A>G | - | intron_variant | - | 1/22 |
6-32007459-A-G | CYP21A2 | c.651+35A>G | - | IntronicSNV | - | 5/9 |
6-30601821-T-C | ATAT1 | c.537+5614T>C | - | IntronicSNV | - | 6/10 |
14-64882380-A-G | MTHFD1 | c.401A>G | p.Lys134Arg | Missense | 6/28 | - |
5-6629930-G-A | NSUN2 | c.359+2056C>T | - | IntronicSNV | - | 3/18 |
12-57559809-G-A | LRP1 | c.2672-58G>A | - | IntronicSNV | - | 16/88 |
19-45395714-T-C | TOMM40 | c.339T>C | p.Phe113Phe | Synonymous | 3/10 | - |
1-209906675-A-G | HSD11B1 | c.661+751A>G | - | IntronicSNV | - | 5/5 |
12-57541265-C-T | LRP1 | c.841+1992C>T | - | IntronicSNV | - | 6/88 |
8-17918986-A-G | ASAH1 | c.752-19T>C | - | IntronicSNV | - | 9/13 |
8-17918986-A-C | ASAH1 | c.752-19T>G | - | IntronicSNV | - | 9/13 |
14-64899055-A-C | MTHFD1 | c.1494+476A>C | - | IntronicSNV | - | 15/27 |
17-74383475-T-A | SPHK1 | c.1005T>A | p.Tyr335* | Nonsense | 6/6 | - |
3-195789915-A-G | TFRC | c.1319-105T>C | - | IntronicSNV | - | 11/18 |
19-1048021-A-G | ABCA7 | c.2269+368A>G | - | IntronicSNV | - | 16/46 |
3-46008087-G-A | FYCO1 | c.2739C>T | p.Cys913Cys | Synonymous | 8/18 | - |
8-143957405-A-C | CYP11B1 | c.955-111T>G | - | IntronicSNV | - | 5/8 |
22-46555321-T-C | PPARA | c.-43+7448T>C | - | intron_variant | - | 2/7 |
11-121435587-T-A | SORL1 | c.3050-2062T>A | - | IntronicSNV | - | 21/47 |
11-121435587-T-C | SORL1 | c.3050-2062T>C | - | IntronicSNV | - | 21/47 |
17-47591886-G-A | NGFR | c.*1515G>A | - | 3-UTRSNV | 6/6 | - |
12-13999379-G-A | GRIN2B | c.411+19353C>T | - | IntronicSNV | - | 2/12 |
X-91496063-T-G | PCDH11X | c.3114+39609T>G | - | IntronicSNV | - | 3/5 |
3-12414420-T-C | PPARG | c.1-6785T>C | - | IntronicSNV | - | 1/6 |
4-23880515-C-T | PPARGC1A | c.234+5860G>A | - | IntronicSNV | - | 2/12 |
10-94382950-T-C | KIF11 | c.1217+1720T>C | - | IntronicSNV | - | 10/21 |
19-9959556-C-T | PIN1 | c.383-210C>T | - | IntronicSNV | - | 3/3 |
11-36251811-A-C | LDLRAD3 | c.*864A>C | - | 3-UTRSNV | 6/6 | - |
17-74381555-G-A | SPHK1 | c.1-171G>A | - | 5-UTRSNV | 2/6 | - |
14-88429690-A-G | GALC | c.1161+38T>C | - | IntronicSNV | - | 10/16 |
11-121415312-C-T | SORL1 | c.1865-640C>T | - | IntronicSNV | - | 13/47 |
13-33613132-G-A | KL | c.820-14772G>A | - | IntronicSNV | - | 1/4 |
1-115873047-G-T | NGF | c.-137+7778C>A | - | intron_variant | - | 1/2 |
3-195777211-C-T | TFRC | c.*1602G>A | - | 3-UTRSNV | 19/19 | - |
2-25529624-A-C | DNMT3A | c.73-6512T>G | - | IntronicSNV | - | 2/22 |
9-32425910-A-G | ACO1 | c.1263A>G | p.Glu421Glu | Synonymous | 11/21 | - |
1-56962821-A-G | PLPP3 | c.811-473T>C | - | IntronicSNV | - | 5/5 |
14-104143385-C-T | KLC1 | c.1380-367C>T | - | IntronicSNV | - | 11/14 |
13-33610711-T-C | KL | c.820-17193T>C | - | IntronicSNV | - | 1/4 |
19-45496303-T-C | CLPTM1 | c.*148T>C | - | 3-UTRSNV | 14/14 | - |
19-45496303-T-A | CLPTM1 | c.*148T>A | - | 3-UTRSNV | 14/14 | - |
2-25548902-A-G | DNMT3A | c.1-12049T>C | - | IntronicSNV | - | 1/22 |
14-88456559-C-A | GALC | c.196-1692G>T | - | IntronicSNV | - | 1/16 |
19-8324347-C-T | CERS4 | c.848+1478C>T | - | IntronicSNV | - | 10/11 |
1-162748025-A-C | DDR2 | c.2284-345A>C | - | IntronicSNV | - | 16/17 |
10-72629567-C-A | SGPL1 | c.723C>A | p.Ala241Ala | Synonymous | 9/15 | - |
14-88415750-A-T | GALC | c.1338+439T>A | - | IntronicSNV | - | 12/16 |
10-72629567-C-T | SGPL1 | c.723C>T | p.Ala241Ala | Synonymous | 9/15 | - |
8-143961102-C-T | CYP11B1 | c.128G>A | p.Arg43Gln | Missense | 1/9 | - |
14-88415750-A-G | GALC | c.1338+439T>C | - | IntronicSNV | - | 12/16 |
10-105218252-A-G | CALHM1 | c.257T>C | p.Leu86Pro | Missense | 1/2 | - |
14-88428544-C-T | GALC | c.1161+1184G>A | - | IntronicSNV | - | 10/16 |
1-101199979-A-G | VCAM1 | c.1793-79A>G | - | IntronicSNV | - | 7/8 |
17-42018471-T-C | PPY | c.263+40A>G | - | IntronicSNV | - | 3/3 |
11-27679732-C-A | BDNF | c.380G>T | p.Arg127Leu | Missense | 1/1 | - |
11-59951433-A-C | MS4A6A | c.-127+360T>G | - | intron_variant | - | 1/6 |
11-77963325-T-G | GAB2 | c.377-1879A>C | - | IntronicSNV | - | 2/9 |
8-96054000-C-T | NDUFAF6 | c.477+146C>T | - | IntronicSNV | - | 4/8 |
11-27679732-C-T | BDNF | c.380G>A | p.Arg127Gln | Missense | 1/1 | - |
11-36066656-T-C | LDLRAD3 | c.193+8857T>C | - | IntronicSNV | - | 2/5 |
3-45966909-C-A | FYCO1 | c.4252-1652G>T | - | IntronicSNV | - | 16/17 |
10-94268334-G-A | IDE | c.1060+151C>T | - | IntronicSNV | - | 7/24 |
19-10370542-C-T | MRPL4 | c.*53C>T | - | 3-UTRSNV | 9/9 | - |
10-17180169-A-C | TRDMT1 | c.*10870T>G | - | IntergenicSNV | 11/11 | - |
19-1041164-C-T | ABCA7 | c.1-197C>T | - | IntronicSNV | - | 1/46 |
17-40969698-G-T | BECN1 | c.682+541C>A | - | intron_variant | - | 7/11 |
10-94268334-G-T | IDE | c.1060+151C>A | - | IntronicSNV | - | 7/24 |
16-68440132-C-T | SMPD3 | c.-268-19570G>A | - | intron_variant | - | 1/8 |
13-33622817-G-A | KL | c.820-5087G>A | - | IntronicSNV | - | 1/4 |
16-68440132-C-G | SMPD3 | c.-268-19570G>C | - | intron_variant | - | 1/8 |
11-121431354-A-T | SORL1 | c.3049+988A>T | - | IntronicSNV | - | 21/47 |
10-101433392-G-A | ENTPD7 | c.192-5626G>A | - | IntronicSNV | - | 3/12 |
19-1047687-C-G | ABCA7 | c.2269+34C>G | - | IntronicSNV | - | 16/46 |
19-1047687-C-T | ABCA7 | c.2269+34C>T | - | IntronicSNV | - | 16/46 |
10-52086939-C-G | SGMS1 | c.741+26G>C | - | IntronicSNV | - | 8/10 |
10-72617256-A-T | SGPL1 | c.410-115A>T | - | IntronicSNV | - | 5/14 |
9-99064296-C-G | HSD17B3 | c.91G>C | p.Val31Leu | Missense | 1/11 | - |
9-99064296-C-T | HSD17B3 | c.91G>A | p.Val31Ile | Missense | 1/11 | - |
1-53716416-G-A | LRP8 | c.2622C>T | p.Asp874Asp | Synonymous | 17/19 | - |
19-45396899-T-C | TOMM40 | c.436-138T>C | - | IntronicSNV | - | 4/9 |
10-94262359-T-A | IDE | c.1430+2192A>T | - | IntronicSNV | - | 11/24 |
11-85757589-C-T | PICALM | c.131-14936G>A | - | IntronicSNV | - | 1/19 |
19-11242496-G-A | LDLR | c.*504G>A | - | 3-UTRSNV | 18/18 | - |
12-12274935-T-C | LRP6 | c.4548-581A>G | - | IntronicSNV | - | 22/22 |
3-133475812-G-A | TF | c.829G>A | p.Gly277Ser | Missense | 7/17 | - |
16-68474620-A-G | SMPD3 | c.-269+7636T>C | - | intron_variant | - | 1/8 |
8-17931704-C-G | ASAH1 | c.173+1346G>C | - | IntronicSNV | - | 2/13 |
11-36139934-T-C | LDLRAD3 | c.454+19923T>C | - | IntronicSNV | - | 4/5 |
10-52337406-T-C | SGMS1 | c.-589+12507A>G | - | intron_variant | - | 2/10 |
10-5141609-C-G | AKR1C3 | c.538C>G | p.Pro180Ala | Missense | 5/9 | - |
2-223335075-A-G | SGPP2 | c.220-4212A>G | - | IntronicSNV | - | 1/4 |
5-54769420-G-A | PLPP1 | c.214-5443C>T | - | IntronicSNV | - | 2/5 |
22-42210985-T-C | CCDC134 | c.564+1159T>C | - | IntronicSNV | - | 6/6 |
4-156130948-C-T | NPY2R | c.-49+727C>T | - | intron_variant | - | 1/1 |
11-60063596-G-T | MS4A4A | c.202-1074G>T | - | IntronicSNV | - | 2/5 |
19-45404691-A-G | TOMM40 | c.946+124A>G | - | IntronicSNV | - | 9/9 |
8-17917866-T-C | ASAH1 | c.834-654A>G | - | IntronicSNV | - | 10/13 |
22-46586110-G-A | PPARA | c.1-8171G>A | - | IntronicSNV | - | 2/7 |
12-13715308-A-C | GRIN2B | c.*409T>G | - | 3-UTRSNV | 13/13 | - |
12-13715308-A-G | GRIN2B | c.*409T>C | - | 3-UTRSNV | 13/13 | - |
11-36013229-A-G | LDLRAD3 | c.47-44424A>G | - | IntronicSNV | - | 1/5 |
4-23853011-T-A | PPARGC1A | c.235-19637A>T | - | IntronicSNV | - | 2/12 |
4-23853011-T-C | PPARGC1A | c.235-19637A>G | - | IntronicSNV | - | 2/12 |
8-17940510-T-A | ASAH1 | c.126+1675A>T | - | IntronicSNV | - | 1/13 |
19-10398131-A-C | ICAM4 | c.394+49A>C | - | IntronicSNV | - | 1/2 |
1-56993415-G-C | PLPP3 | c.298-3189C>G | - | IntronicSNV | - | 2/5 |
10-20380428-C-A | PLXDC2 | c.541+23260C>A | - | IntronicSNV | - | 4/13 |
19-288246-T-G | PLPP2 | c.53-75A>C | - | IntronicSNV | - | 1/5 |
9-32448959-T-G | ACO1 | c.2436T>G | p.Gly812Gly | Synonymous | 20/21 | - |
10-73600155-G-A | PSAP | c.41-5893C>T | - | IntronicSNV | - | 1/13 |
16-68438621-G-A | SMPD3 | c.-268-18059C>T | - | intron_variant | - | 1/8 |
9-87419506-T-C | NTRK2 | c.1397-5951T>C | - | IntronicSNV | - | 14/14 |
9-87419506-T-A | NTRK2 | c.1397-5951T>A | - | IntronicSNV | - | 14/14 |
1-56974091-G-A | PLPP3 | c.810+3557C>T | - | IntronicSNV | - | 5/5 |
9-32450043-T-C | ACO1 | c.2604T>C | p.Asp868Asp | Synonymous | 21/21 | - |
19-19011244-T-A | COPE | c.750A>T | p.Pro250Pro | Synonymous | 8/10 | - |
1-56993415-G-A | PLPP3 | c.298-3189C>T | - | IntronicSNV | - | 2/5 |
X-91836167-G-A | PCDH11X | c.3338-37096G>A | - | IntronicSNV | - | 5/5 |
22-46564686-G-C | PPARA | c.-43+16813G>C | - | intron_variant | - | 2/7 |
22-46564686-G-A | PPARA | c.-43+16813G>A | - | intron_variant | - | 2/7 |
2-127859418-T-C | BIN1 | c.84+5018A>G | - | IntronicSNV | - | 1/18 |
19-45459851-T-C | CLPTM1 | c.72+1127T>C | - | IntronicSNV | - | 1/13 |
11-59943109-A-T | MS4A6A | c.424-25T>A | - | IntronicSNV | - | 5/6 |
11-59942757-C-T | MS4A6A | c.633+118G>A | - | IntronicSNV | - | 6/6 |
19-10396336-C-T | ICAM1 | c.*373C>T | - | 3-UTRSNV | 7/7 | - |
10-75197051-C-T | PPP3CB | c.*949G>A | - | 3-UTRSNV | 14/14 | - |
7-143088531-C-T | EPHA1 | c.*19G>A | - | 3-UTRSNV | 18/18 | - |
11-36103381-A-G | LDLRAD3 | c.319+53A>G | - | IntronicSNV | - | 3/5 |
19-45382034-A-G | NECTIN2 | c.*157A>G | - | 3-UTRSNV | 6/6 | - |
2-169396495-C-T | CERS6 | c.171-7611C>T | - | IntronicSNV | - | 1/9 |
19-45401666-A-G | TOMM40 | c.644-2321A>G | - | IntronicSNV | - | 6/9 |
2-127841769-C-T | BIN1 | c.85-7487G>A | - | IntronicSNV | - | 1/18 |
X-38262808-G-A | OTC | c.541-63G>A | - | IntronicSNV | - | 5/9 |
1-57025764-C-T | PLPP3 | c.139+18787G>A | - | IntronicSNV | - | 1/5 |
5-179260528-T-C | SQSTM1 | c.718-59T>C | - | IntronicSNV | - | 7/8 |
20-44530838-G-T | PLTP | c.1175+68C>A | - | IntronicSNV | - | 12/15 |
15-101045079-G-A | CERS3 | c.1-3025C>T | - | IntronicSNV | - | 3/12 |
19-11227602-C-T | LDLR | c.1773C>T | p.Asn591Asn | Synonymous | 12/18 | - |
20-31383886-T-C | DNMT3B | c.1297+386T>C | - | IntronicSNV | - | 12/22 |
7-143093824-G-A | EPHA1 | c.1772-221C>T | - | IntronicSNV | - | 10/17 |
6-52052018-G-A | IL17A | c.28-383G>A | - | IntronicSNV | - | 1/2 |
19-45726106-T-C | EXOC3L2 | c.540+1930A>G | - | IntronicSNV | - | 6/9 |
10-52103707-A-C | SGMS1 | c.168T>G | p.Asn56Lys | Missense | 7/11 | - |
10-52103707-A-G | SGMS1 | c.168T>C | p.Asn56Asn | Synonymous | 7/11 | - |
19-11242658-T-C | LDLR | c.*666T>C | - | 3-UTRSNV | 18/18 | - |
19-11242658-T-A | LDLR | c.*666T>A | - | 3-UTRSNV | 18/18 | - |
2-217528816-C-T | IGFBP2 | c.967C>T | p.Arg323Trp | Missense | 4/4 | - |
10-72604263-G-T | SGPL1 | c.61G>T | p.Val21Leu | Missense | 3/15 | - |
9-114688103-A-G | UGCG | c.446-561A>G | - | IntronicSNV | - | 4/8 |
16-46736263-C-A | MYLK3 | c.*5353G>T | - | 3-UTRSNV | 13/13 | - |
2-31803939-T-G | SRD5A2 | c.278+1751A>C | - | intron_variant | - | 2/5 |
16-46692699-G-A | VPS35 | c.*1685C>T | - | IntergenicSNV | 17/17 | - |
11-121327859-G-T | SORL1 | c.285+4534G>T | - | IntronicSNV | - | 1/47 |
22-46621045-A-G | PPARA | c.711+5134A>G | - | IntronicSNV | - | 6/7 |
9-6240324-T-C | IL33 | c.1-1371T>C | - | IntronicSNV | - | 1/7 |
1-11191232-G-A | MTOR | c.5365-398C>T | - | IntronicSNV | - | 38/57 |
11-60050125-A-G | MS4A4A | c.41+1936A>G | - | IntronicSNV | - | 1/5 |
11-60050125-A-C | MS4A4A | c.41+1936A>C | - | IntronicSNV | - | 1/5 |
11-77990260-G-A | GAB2 | c.376+1387C>T | - | IntronicSNV | - | 2/9 |
11-36155730-T-C | LDLRAD3 | c.454+35719T>C | - | IntronicSNV | - | 4/5 |
1-56997782-T-C | PLPP3 | c.297+4845A>G | - | IntronicSNV | - | 2/5 |
19-45324516-C-G | BCAM | c.*338C>G | - | 3-UTRSNV | 15/15 | - |
17-74383475-T-C | SPHK1 | c.1005T>C | p.Tyr335Tyr | Synonymous | 6/6 | - |
17-42427546-GTCA-GTCAGTCA | GRN | c.350-50_350-47dup | - | IntronicInsertion | - | 4/12 |
10-17216419-T-C | TRDMT1 | c.174+131A>G | - | IntronicSNV | - | 2/10 |
14-64909151-G-A | MTHFD1 | c.2136+31G>A | - | IntronicSNV | - | 21/27 |
1-207814451-T-C | CR1 | c.*1697T>C | - | 3-UTRSNV | 39/39 | - |
13-33610151-T-G | KL | c.820-17753T>G | - | IntronicSNV | - | 1/4 |
9-6248035-C-T | IL33 | c.92-2439C>T | - | IntronicSNV | - | 2/7 |
22-46628119-C-G | PPARA | c.1142C>G | p.Ala381Gly | Missense | 7/8 | - |
19-51743144-G-C | CD33 | c.*201G>C | - | 3-UTRSNV | 7/7 | - |
1-101202354-A-G | VCAM1 | c.2060-1325A>G | - | IntronicSNV | - | 8/8 |
4-23815924-T-C | PPARGC1A | c.1182A>G | p.Thr394Thr | Synonymous | 8/13 | - |
8-143960597-G-A | CYP11B1 | c.246C>T | p.Asp82Asp | Synonymous | 2/9 | - |
3-45980673-G-A | FYCO1 | c.3945-2638C>T | - | IntronicSNV | - | 14/17 |
11-35992770-G-A | LDLRAD3 | c.46+27076G>A | - | IntronicSNV | - | 1/5 |
10-94229912-C-T | IDE | c.2208+99G>A | - | IntronicSNV | - | 18/24 |
10-69674347-A-C | SIRT1 | c.1915+1559A>C | - | IntronicSNV | - | 8/8 |
10-69674347-A-G | SIRT1 | c.1915+1559A>G | - | IntronicSNV | - | 8/8 |
10-52099505-G-A | SGMS1 | c.623+3747C>T | - | IntronicSNV | - | 7/10 |
3-133466374-A-G | TF | c.44-882A>G | - | IntronicSNV | - | 1/16 |
1-156846233-G-A | NTRK1 | c.1674G>A | p.Gln558Gln | Synonymous | 14/17 | - |
1-156846233-G-C | NTRK1 | c.1674G>C | p.Gln558His | Missense | 14/17 | - |
7-143093307-G-A | EPHA1 | c.1897+171C>T | - | IntronicSNV | - | 11/17 |
15-51516055-C-A | CYP19A1 | c.452-1333G>T | - | IntronicSNV | - | 4/9 |
10-72593611-C-T | SGPL1 | c.28-10619C>T | - | IntronicSNV | - | 2/14 |
16-46723079-C-G | VPS35 | c.1-34G>C | - | 5-UTRSNV | 1/17 | - |
14-88419358-T-C | GALC | c.1162-2266A>G | - | IntronicSNV | - | 10/16 |
16-46723079-C-A | VPS35 | c.1-34G>T | - | 5-UTRSNV | 1/17 | - |
1-11301714-A-G | MTOR | c.1437T>C | p.Asp479Asp | Synonymous | 10/58 | - |
2-25510276-C-T | DNMT3A | c.178-4696G>A | - | IntronicSNV | - | 3/22 |
5-78421959-G-A | BHMT | c.716G>A | p.Arg239Gln | Missense | 6/8 | - |
1-57007539-T-C | PLPP3 | c.140-4755A>G | - | IntronicSNV | - | 1/5 |
14-64914537-T-C | MTHFD1 | c.2179-398T>C | - | IntronicSNV | - | 22/27 |
14-104152352-C-G | KLC1 | c.*396C>G | - | 3_prime_UTR_variant | 15/15 | - |
17-42091213-A-T | TMEM101 | c.318+512T>A | - | IntronicSNV | - | 2/3 |
4-23874981-C-T | PPARGC1A | c.234+11394G>A | - | IntronicSNV | - | 2/12 |
8-17930999-A-G | ASAH1 | c.173+2051T>C | - | IntronicSNV | - | 2/13 |
11-36089700-G-A | LDLRAD3 | c.194-13503G>A | - | IntronicSNV | - | 2/5 |
9-114690413-T-C | UGCG | c.559-1367T>C | - | IntronicSNV | - | 5/8 |
18-21120444-T-A | NPC1 | c.2572A>T | p.Ile858Phe | Missense | 17/25 | - |
18-21120444-T-C | NPC1 | c.2572A>G | p.Ile858Val | Missense | 17/25 | - |
18-21162288-C-T | NPC1 | c.57+3963G>A | - | IntronicSNV | - | 1/24 |
22-19950263-G-A | COMT | c.214G>A | p.Ala72Thr | Missense | 3/6 | - |
1-207692049-A-T | CR1 | c.488-4907A>T | - | IntronicSNV | - | 4/38 |
4-23825346-A-C | PPARGC1A | c.877+557T>G | - | IntronicSNV | - | 7/12 |
2-217514772-G-A | IGFBP2 | c.443-10508G>A | - | IntronicSNV | - | 1/3 |
10-52331281-C-G | SGMS1 | c.-589+18632G>C | - | intron_variant | - | 2/10 |
10-73581560-A-T | PSAP | c.909+73T>A | - | IntronicSNV | - | 8/13 |
1-209882015-C-T | HSD11B1 | c.517+1542C>T | - | IntronicSNV | - | 4/5 |
8-27195121-T-C | PTK2B | c.-38+11923T>C | - | intron_variant | - | 2/31 |
4-23815522-C-A | PPARGC1A | c.1584G>T | p.Thr528Thr | Synonymous | 8/13 | - |
10-52331281-C-T | SGMS1 | c.-589+18632G>A | - | intron_variant | - | 2/10 |
19-40877595-G-A | PLD3 | c.694G>A | p.Val232Met | Missense | 9/13 | - |
11-73718063-C-G | UCP3 | c.25G>C | p.Val9Leu | Missense | 2/7 | - |
22-46567388-A-G | PPARA | c.-43+19515A>G | - | intron_variant | - | 2/7 |
11-36514245-C-T | TRAF6 | c.679-67G>A | - | IntronicSNV | - | 6/7 |
17-40966080-T-C | BECN1 | c.980-54A>G | - | intron_variant | - | 9/11 |
6-30610042-C-A | ATAT1 | c.724+18C>A | - | IntronicSNV | - | 9/10 |
4-23856492-C-T | PPARGC1A | c.235-23118G>A | - | IntronicSNV | - | 2/12 |
6-30610042-C-G | ATAT1 | c.724+18C>G | - | IntronicSNV | - | 9/10 |
4-164252812-T-C | NPY1R | c.-152+822A>G | - | intron_variant | - | 1/2 |
6-30610042-C-T | ATAT1 | c.724+18C>T | - | IntronicSNV | - | 9/10 |
9-32410850-T-C | ACO1 | c.404+2201T>C | - | IntronicSNV | - | 4/20 |
17-44019712-G-A | MAPT | c.1-19992G>A | - | IntronicSNV | - | 1/13 |
2-170010985-T-A | LRP2 | c.12280A>T | p.Lys4094* | Nonsense | 66/79 | - |
16-67475533-C-T | ATP6V0D1 | c.561+1469G>A | - | IntronicSNV | - | 4/7 |
9-87415028-G-C | NTRK2 | c.1397-10429G>C | - | IntronicSNV | - | 14/14 |
16-67475533-C-A | ATP6V0D1 | c.561+1469G>T | - | IntronicSNV | - | 4/7 |
9-99006889-T-C | HSD17B3 | c.607-213A>G | - | IntronicSNV | - | 8/10 |
9-87415028-G-T | NTRK2 | c.1397-10429G>T | - | IntronicSNV | - | 14/14 |
15-51613529-G-C | CYP19A1 | c.-39+17163C>G | - | intron_variant | - | 1/9 |
X-91527166-G-T | PCDH11X | c.3114+70712G>T | - | IntronicSNV | - | 3/5 |
11-73716469-A-G | UCP3 | c.541+306T>C | - | IntronicSNV | - | 4/6 |
8-143994806-A-T | CYP11B2 | c.1016T>A | p.Ile339Asn | Missense | 6/9 | - |
8-143994806-A-G | CYP11B2 | c.1016T>C | p.Ile339Thr | Missense | 6/9 | - |
5-54774169-C-T | PLPP1 | c.214-10192G>A | - | IntronicSNV | - | 2/5 |
10-52160862-A-G | SGMS1 | c.-232+32374T>C | - | intron_variant | - | 6/10 |
6-28269663-A-G | PGBD1 | c.2032A>G | p.Ile678Val | Missense | 7/7 | - |
10-75261465-C-T | USP54 | c.4312-869G>A | - | IntronicSNV | - | 20/21 |
19-45409167-C-T | APOE | c.-24+69C>T | - | intron_variant | - | 1/3 |
3-12421238-C-G | PPARG | c.34C>G | p.Pro12Ala | Missense | 2/7 | - |
10-94387334-T-C | KIF11 | c.1218-1231T>C | - | IntronicSNV | - | 10/21 |
6-109762332-C-T | PPIL6 | c.1-539G>A | - | 5-UTRSNV | 1/9 | - |
15-101003121-G-A | CERS3 | c.845+6462C>T | - | IntronicSNV | - | 11/12 |
2-25539357-G-A | DNMT3A | c.1-2504C>T | - | IntronicSNV | - | 1/22 |
19-11227326-C-A | LDLR | c.1706-209C>A | - | IntronicSNV | - | 11/17 |
11-85703974-A-C | PICALM | c.1259-2532T>G | - | IntronicSNV | - | 12/19 |
13-33599198-A-G | KL | c.819+7801A>G | - | IntronicSNV | - | 1/4 |
4-164245854-A-G | NPY1R | c.*601T>C | - | 3-UTRSNV | 3/3 | - |
17-42426940-G-C | GRN | c.264+21G>C | - | IntronicSNV | - | 3/12 |
15-51040798-T-C | SPPL2A | c.360+87A>G | - | IntronicSNV | - | 3/14 |
6-109769020-T-C | MICAL1 | c.1944+58A>G | - | IntronicSNV | - | 14/24 |
6-47549629-A-G | CD2AP | c.1046-110A>G | - | IntronicSNV | - | 10/17 |
10-94214359-T-A | IDE | c.2965-63A>T | - | IntronicSNV | - | 24/24 |
18-21124945-C-T | NPC1 | c.1926G>A | p.Met642Ile | Missense | 12/25 | - |
10-20491011-G-A | PLXDC2 | c.1062-9587G>A | - | IntronicSNV | - | 9/13 |
10-20491011-G-T | PLXDC2 | c.1062-9587G>T | - | IntronicSNV | - | 9/13 |
11-121426207-T-G | SORL1 | c.2571+180T>G | - | IntronicSNV | - | 18/47 |
20-31396152-C-T | DNMT3B | c.*443C>T | - | 3-UTRSNV | 23/23 | - |
3-45960079-C-G | FYCO1 | c.*3178G>C | - | 3-UTRSNV | 18/18 | - |
3-45960079-C-A | FYCO1 | c.*3178G>T | - | 3-UTRSNV | 18/18 | - |
13-33629393-C-T | KL | c.1540C>T | p.Pro514Ser | Missense | 3/5 | - |
1-206947167-C-T | IL19 | c.-35+2744C>T | - | intron_variant | - | 1/6 |
10-17203970-C-T | TRDMT1 | c.323+195G>A | - | IntronicSNV | - | 4/10 |
12-12323618-C-T | LRP6 | c.1546-5389G>A | - | IntronicSNV | - | 7/22 |
19-572596-A-C | BSG | c.1-39A>C | - | 5-UTRSNV | 1/9 | - |
12-12323618-C-G | LRP6 | c.1546-5389G>C | - | IntronicSNV | - | 7/22 |
1-101203827-G-A | VCAM1 | c.2208G>A | p.Lys736Lys | Synonymous | 9/9 | - |
19-572596-A-G | BSG | c.1-39A>G | - | 5-UTRSNV | 1/9 | - |
2-217498839-T-G | IGFBP2 | c.442+151T>G | - | IntronicSNV | - | 1/3 |
17-61559923-C-T | ACE | c.1215C>T | p.Pro405Pro | Synonymous | 8/25 | - |
17-44051846-A-G | MAPT | c.307+9A>G | - | IntronicSNV | - | 4/13 |
14-88414603-T-C | GALC | c.1339-381A>G | - | IntronicSNV | - | 12/16 |
8-143960167-G-A | CYP11B1 | c.395+281C>T | - | IntronicSNV | - | 2/8 |
10-17210881-A-G | TRDMT1 | c.210T>C | p.Phe70Phe | Synonymous | 3/11 | - |
8-143960167-G-C | CYP11B1 | c.395+281C>G | - | IntronicSNV | - | 2/8 |
X-38267775-G-A | OTC | c.664-220G>A | - | IntronicSNV | - | 6/9 |
6-32009354-T-C | CYP21A2 | c.*443T>C | - | 3-UTRSNV | 10/10 | - |
2-149408239-A-G | EPC2 | c.153+5500A>G | - | IntronicSNV | - | 1/13 |
2-68446669-C-T | PPP3R1 | c.4-2406G>A | - | IntronicSNV | - | 1/5 |
1-115874931-A-G | NGF | c.-137+5894T>C | - | intron_variant | - | 1/2 |
5-179264731-T-A | SQSTM1 | c.*1138T>A | - | 3-UTRSNV | 9/9 | - |
2-169537411-C-T | CERS6 | c.466-10133C>T | - | IntronicSNV | - | 4/9 |
16-67478976-C-A | ATP6V0D1 | c.303-367G>T | - | IntronicSNV | - | 2/7 |
4-164249485-C-T | NPY1R | c.1-1779G>A | - | IntronicSNV | - | 1/2 |
10-52267394-T-C | SGMS1 | c.-498+12197A>G | - | intron_variant | - | 3/10 |
11-36218947-C-T | LDLRAD3 | c.455-29688C>T | - | IntronicSNV | - | 4/5 |
2-149408239-A-T | EPC2 | c.153+5500A>T | - | IntronicSNV | - | 1/13 |
2-25465720-T-C | DNMT3A | c.1936+1047A>G | - | IntronicSNV | - | 16/22 |
11-121501755-G-A | SORL1 | c.*1483G>A | - | 3-UTRSNV | 48/48 | - |
14-100133942-T-C | HHIPL1 | c.1649-617T>C | - | IntronicSNV | - | 6/8 |
3-45960700-C-T | FYCO1 | c.*2557G>A | - | 3-UTRSNV | 18/18 | - |
10-52265265-C-A | SGMS1 | c.-498+14326G>T | - | intron_variant | - | 3/10 |
10-52265265-C-T | SGMS1 | c.-498+14326G>A | - | intron_variant | - | 3/10 |
16-46697098-A-G | VPS35 | c.1648-24T>C | - | IntronicSNV | - | 13/16 |
12-12405872-A-G | LRP6 | c.56-8283T>C | - | IntronicSNV | - | 1/22 |
11-59947252-C-T | MS4A6A | c.366+52G>A | - | IntronicSNV | - | 4/6 |
17-42041273-T-C | PYY | c.-218+2383A>G | - | intron_variant | - | 2/6 |
3-195804763-C-T | TFRC | c.1-793G>A | - | IntronicSNV | - | 1/18 |
4-164249485-C-A | NPY1R | c.1-1779G>T | - | IntronicSNV | - | 1/2 |
5-78381689-A-T | BHMT2 | c.1010+2010A>T | - | IntronicSNV | - | 7/7 |
5-78381689-A-C | BHMT2 | c.1010+2010A>C | - | IntronicSNV | - | 7/7 |
14-64895154-G-T | MTHFD1 | c.1264+963G>T | - | IntronicSNV | - | 12/27 |
6-30611676-C-A | ATAT1 | c.*337C>A | - | 3-UTRSNV | 11/11 | - |
11-121426207-T-A | SORL1 | c.2571+180T>A | - | IntronicSNV | - | 18/47 |
6-47562766-C-T | CD2AP | c.1109-831C>T | - | IntronicSNV | - | 11/17 |
10-94224165-C-T | IDE | c.2489-405G>A | - | IntronicSNV | - | 20/24 |
6-47562766-C-A | CD2AP | c.1109-831C>A | - | IntronicSNV | - | 11/17 |
12-14117043-A-C | GRIN2B | c.-19+15819T>G | - | intron_variant | - | 1/12 |
2-127816424-A-G | BIN1 | c.1002+163T>C | - | IntronicSNV | - | 11/18 |
10-94327156-T-C | IDE | c.98+6523A>G | - | IntronicSNV | - | 1/24 |
20-31359697-G-A | DNMT3B | c.1-8433G>A | - | IntronicSNV | - | 1/22 |
1-156848995-C-T | NTRK1 | c.1887C>T | p.Ala629Ala | Synonymous | 15/17 | - |
2-25532969-C-T | DNMT3A | c.72+3813G>A | - | IntronicSNV | - | 2/22 |
4-23821523-C-T | PPARGC1A | c.877+4380G>A | - | IntronicSNV | - | 7/12 |
19-1052005-C-A | ABCA7 | c.3027C>A | p.Ala1009Ala | Synonymous | 22/47 | - |
19-10256910-C-A | DNMT1 | c.2846+117G>T | - | IntronicSNV | - | 27/39 |
20-33141272-T-G | MAP1LC3A | c.52+3439T>G | - | IntronicSNV | - | 2/4 |
19-1052005-C-T | ABCA7 | c.3027C>T | p.Ala1009Ala | Synonymous | 22/47 | - |
13-33628989-A-G | KL | c.1331-195A>G | - | IntronicSNV | - | 2/4 |
11-85729372-A-T | PICALM | c.453-3366T>A | - | IntronicSNV | - | 4/19 |
11-85729372-A-G | PICALM | c.453-3366T>C | - | IntronicSNV | - | 4/19 |
16-68479656-C-G | SMPD3 | c.-269+2600G>C | - | intron_variant | - | 1/8 |
19-11230881-T-C | LDLR | c.1959T>C | p.Val653Val | Synonymous | 13/18 | - |
10-52315912-C-T | SGMS1 | c.-589+34001G>A | - | intron_variant | - | 2/10 |
19-11202306-G-T | LDLR | c.67+2015G>T | - | IntronicSNV | - | 1/17 |
20-33141272-T-C | MAP1LC3A | c.52+3439T>C | - | IntronicSNV | - | 2/4 |
6-109764404-C-T | SMPD2 | c.730-66C>T | - | IntronicSNV | - | 8/9 |
11-85772636-G-A | PICALM | c.130+7057C>T | - | IntronicSNV | - | 1/19 |
8-27454575-C-T | CLU | c.*1183G>A | - | 3-UTRSNV | 9/9 | - |
8-143961005-T-A | CYP11B1 | c.225A>T | p.Leu75Leu | Synonymous | 1/9 | - |
3-46007823-G-T | FYCO1 | c.3003C>A | p.Asn1001Lys | Missense | 8/18 | - |
19-49935536-G-A | SLC17A7 | c.1150+240C>T | - | IntronicSNV | - | 9/11 |
2-149438211-G-A | EPC2 | c.154-9572G>A | - | IntronicSNV | - | 1/13 |
11-121483401-C-T | SORL1 | c.5323-44C>T | - | IntronicSNV | - | 39/47 |
10-52005293-G-A | ASAH2 | c.128-79C>T | - | IntronicSNV | - | 1/19 |
12-14031100-C-T | GRIN2B | c.1-11958G>A | - | IntronicSNV | - | 1/12 |
10-94232247-T-C | IDE | c.2117-2145A>G | - | IntronicSNV | - | 17/24 |
3-12456834-A-T | PPARG | c.736-1369A>T | - | IntronicSNV | - | 5/6 |
1-11850927-C-T | MTHFR | c.1781G>A | p.Arg594Gln | Missense | 12/12 | - |
3-45962752-T-C | FYCO1 | c.*505A>G | - | 3-UTRSNV | 18/18 | - |
3-45962752-T-A | FYCO1 | c.*505A>T | - | 3-UTRSNV | 18/18 | - |
17-7290695-A-G | TNK1 | c.1398-2A>G | - | IntronicSNV | - | 9/12 |
3-148916235-T-A | CP | c.1632A>T | p.Glu544Asp | Missense | 9/19 | - |
20-31360383-C-T | DNMT3B | c.1-7747C>T | - | IntronicSNV | - | 1/22 |
3-133465283-A-G | TF | c.1-2A>G | - | 5-UTRSNV | 1/17 | - |
7-24325495-G-C | NPY | c.188+448G>C | - | IntronicSNV | - | 2/3 |
19-18984843-G-A | GDF1 | c.1-3727C>T | - | IntronicSNV | - | 6/7 |
9-99013616-C-T | HSD17B3 | c.453+84G>A | - | IntronicSNV | - | 5/10 |
14-64889656-G-A | MTHFD1 | c.728-1866G>A | - | IntronicSNV | - | 8/27 |
20-31393803-T-C | DNMT3B | c.2302-212T>C | - | IntronicSNV | - | 21/22 |
9-99013616-C-G | HSD17B3 | c.453+84G>C | - | IntronicSNV | - | 5/10 |
13-33617174-T-G | KL | c.820-10730T>G | - | IntronicSNV | - | 1/4 |
11-85681389-A-G | PICALM | c.1944+4362T>C | - | IntronicSNV | - | 19/19 |
20-33142873-G-A | MAP1LC3A | c.53-4139G>A | - | IntronicSNV | - | 2/4 |
6-134213181-C-G | TCF21 | c.*241C>G | - | IntronicSNV | 3/3 | - |
6-134213181-C-T | TCF21 | c.*241C>T | - | IntronicSNV | 3/3 | - |
9-140034431-C-T | GRIN1 | c.258+235C>T | - | IntronicSNV | - | 1/19 |
11-36522260-T-C | TRAF6 | c.296+510A>G | - | IntronicSNV | - | 3/7 |
11-36522260-T-G | TRAF6 | c.296+510A>C | - | IntronicSNV | - | 3/7 |
11-73717074-G-A | UCP3 | c.338-96C>T | - | IntronicSNV | - | 3/6 |
11-221584-C-T | SIRT3 | c.543+2494G>A | - | IntronicSNV | - | 5/6 |
11-36111616-A-G | LDLRAD3 | c.320-8261A>G | - | IntronicSNV | - | 3/5 |
1-209894661-G-A | HSD11B1 | c.518-11120G>A | - | IntronicSNV | - | 4/5 |
19-18988218-C-T | GDF1 | c.-313+1521G>A | - | intron_variant | - | 6/7 |
4-23794252-T-C | PPARGC1A | c.*3193A>G | - | 3-UTRSNV | 13/13 | - |
4-23794252-T-G | PPARGC1A | c.*3193A>C | - | 3-UTRSNV | 13/13 | - |
19-282753-G-T | PLPP2 | c.539C>A | p.Ala180Glu | Missense | 4/6 | - |
19-282753-G-C | PLPP2 | c.539C>G | p.Ala180Gly | Missense | 4/6 | - |
19-282753-G-A | PLPP2 | c.539C>T | p.Ala180Val | Missense | 4/6 | - |
14-64878265-G-A | MTHFD1 | c.186+398G>A | - | IntronicSNV | - | 3/27 |
3-46005882-G-A | FYCO1 | c.3215C>T | p.Ala1072Val | Missense | 10/18 | - |
3-46000037-C-T | FYCO1 | c.3662G>A | p.Arg1221His | Missense | 13/18 | - |
9-6240084-T-C | IL33 | c.1-1611T>C | - | IntronicSNV | - | 1/7 |
9-6240084-T-G | IL33 | c.1-1611T>G | - | IntronicSNV | - | 1/7 |
11-77976208-C-G | GAB2 | c.377-14762G>C | - | IntronicSNV | - | 2/9 |
11-121448090-T-G | SORL1 | c.3561T>G | p.Ser1187Ser | Synonymous | 25/48 | - |
11-85688209-A-C | PICALM | c.1780-484T>G | - | IntronicSNV | - | 17/19 |
19-11224265-A-G | LDLR | c.1413A>G | p.Arg471Arg | Synonymous | 10/18 | - |
4-164250797-A-G | NPY1R | c.-152+2837T>C | - | intron_variant | - | 1/2 |
10-88068120-A-G | GRID1 | c.235+55578T>C | - | IntronicSNV | - | 2/15 |
2-25463483-G-A | DNMT3A | c.2173+26C>T | - | IntronicSNV | - | 18/22 |
6-28264681-G-A | PGBD1 | c.731G>A | p.Gly244Glu | Missense | 5/7 | - |
9-99056209-A-C | HSD17B3 | c.201+4489T>G | - | IntronicSNV | - | 2/10 |
19-1054060-A-G | ABCA7 | c.3528A>G | p.Leu1176Leu | Synonymous | 26/47 | - |
13-110960712-A-G | COL4A2 | c.99+242A>G | - | IntronicSNV | - | 3/47 |
11-36117340-G-A | LDLRAD3 | c.320-2537G>A | - | IntronicSNV | - | 3/5 |
11-36117340-G-C | LDLRAD3 | c.320-2537G>C | - | IntronicSNV | - | 3/5 |
15-101077556-A-G | CERS3 | c.-355+7300T>C | - | intron_variant | - | 1/12 |
1-101202256-T-C | VCAM1 | c.2060-1423T>C | - | IntronicSNV | - | 8/8 |
1-101202256-T-A | VCAM1 | c.2060-1423T>A | - | IntronicSNV | - | 8/8 |
16-10041823-C-A | GRIN2A | c.415-9415G>T | - | IntronicSNV | - | 3/13 |
10-73597352-C-T | PSAP | c.41-3090G>A | - | IntronicSNV | - | 1/13 |
10-52327409-T-C | SGMS1 | c.-589+22504A>G | - | intron_variant | - | 2/10 |
4-23840088-G-A | PPARGC1A | c.235-6714C>T | - | IntronicSNV | - | 2/12 |
17-40961138-T-C | CNTD1 | c.823-245T>C | - | IntronicSNV | - | 6/6 |
17-42427732-G-T | GRN | c.462+24G>T | - | IntronicSNV | - | 5/12 |
10-94331341-G-A | IDE | c.98+2338C>T | - | IntronicSNV | - | 1/24 |
17-40962509-A-T | BECN1 | c.*269T>A | - | 3-UTRSNV | 12/12 | - |
17-61573761-T-C | ACE | c.3387T>C | p.Phe1129Phe | Synonymous | 23/25 | - |
6-32006337-C-T | CYP21A2 | c.138C>T | p.Pro46Pro | Synonymous | 1/10 | - |
10-75251319-T-C | PPP3CB | c.85+4244A>G | - | IntronicSNV | - | 1/13 |
10-75251319-T-A | PPP3CB | c.85+4244A>T | - | IntronicSNV | - | 1/13 |
11-36117340-G-T | LDLRAD3 | c.320-2537G>T | - | IntronicSNV | - | 3/5 |
16-10041823-C-T | GRIN2A | c.415-9415G>A | - | IntronicSNV | - | 3/13 |
20-31393803-T-A | DNMT3B | c.2302-212T>A | - | IntronicSNV | - | 21/22 |
20-31386347-T-A | DNMT3B | c.1572T>A | p.Cys524* | Nonsense | 15/23 | - |
19-49120434-C-T | RPL18 | c.198+139G>A | - | IntronicSNV | - | 3/6 |
10-73605926-G-A | PSAP | c.40+5013C>T | - | IntronicSNV | - | 1/13 |
19-1057137-G-A | ABCA7 | c.4764+54G>A | - | IntronicSNV | - | 34/46 |
19-9958878-A-C | PIN1 | c.382+62A>C | - | IntronicSNV | - | 3/3 |
10-94319992-G-A | IDE | c.98+13687C>T | - | IntronicSNV | - | 1/24 |
12-13773428-A-T | GRIN2B | c.1126-3837T>A | - | IntronicSNV | - | 4/12 |
2-169546569-T-G | CERS6 | c.466-975T>G | - | IntronicSNV | - | 4/9 |
10-20534333-A-T | PLXDC2 | c.1372A>T | p.Ile458Phe | Missense | 13/14 | - |
10-20534333-A-G | PLXDC2 | c.1372A>G | p.Ile458Val | Missense | 13/14 | - |
12-12284915-G-A | LRP6 | c.3810C>T | p.Cys1270Cys | Synonymous | 18/23 | - |
10-52104556-C-T | SGMS1 | c.1-682G>A | - | IntronicSNV | 2/11 | - |
18-21134239-C-T | NPC1 | c.1553+483G>A | - | IntronicSNV | - | 9/24 |
12-125332955-T-C | SCARB1 | c.126+15186A>G | - | IntronicSNV | - | 1/12 |
12-125332955-T-A | SCARB1 | c.126+15186A>T | - | IntronicSNV | - | 1/12 |
1-101203395-A-T | VCAM1 | c.2060-284A>T | - | IntronicSNV | - | 8/8 |
4-23834876-C-A | PPARGC1A | c.235-1502G>T | - | IntronicSNV | - | 2/12 |
9-90145115-A-G | DAPK1 | c.62+31061A>G | - | IntronicSNV | - | 2/25 |
3-12470239-A-C | PPARG | c.1187-5158A>C | - | IntronicSNV | - | 6/6 |
9-114668639-C-A | UGCG | c.99-8246C>A | - | IntronicSNV | - | 1/8 |
20-31391898-C-T | DNMT3B | c.2232-1246C>T | - | IntronicSNV | - | 20/22 |
17-40972669-C-T | BECN1 | c.197+123G>A | - | intron_variant | - | 3/11 |
1-11854476-T-G | MTHFR | c.1286A>C | p.Glu429Ala | Missense | 8/12 | - |
19-1048116-G-A | ABCA7 | c.2269+463G>A | - | IntronicSNV | - | 16/46 |
19-45728059-T-C | EXOC3L2 | c.517A>G | p.Asn173Asp | Missense | 6/10 | - |
1-156848918-C-T | NTRK1 | c.1810C>T | p.His604Tyr | Missense | 15/17 | - |
X-91439067-C-T | PCDH11X | c.3034-17307C>T | - | IntronicSNV | - | 2/5 |
10-94368588-T-C | KIF11 | c.388-189T>C | - | IntronicSNV | - | 4/21 |
11-27677041-C-G | BDNF | c.*2326G>C | - | 3_prime_UTR_variant | 1/1 | - |
6-30601232-A-G | ATAT1 | c.537+5025A>G | - | IntronicSNV | - | 6/10 |
19-11242133-G-A | LDLR | c.*141G>A | - | 3-UTRSNV | 18/18 | - |
11-78169785-C-T | NARS2 | c.1164+7137G>A | - | IntronicSNV | - | 11/13 |
10-52373976-G-C | SGMS1 | c.-684+9491C>G | - | intron_variant | - | 1/10 |
10-17217803-A-G | TRDMT1 | c.65-1144T>C | - | IntronicSNV | - | 1/10 |
12-57535266-C-A | LRP1 | c.300C>A | p.Asp100Glu | Missense | 3/89 | - |
12-57535266-C-T | LRP1 | c.300C>T | p.Asp100Asp | Synonymous | 3/89 | - |
22-46636007-G-A | PPARA | c.*4730G>A | - | 3-UTRSNV | 8/8 | - |
11-77941076-T-C | GAB2 | c.621-2979A>G | - | IntronicSNV | - | 3/9 |
11-121328954-T-C | SORL1 | c.285+5629T>C | - | IntronicSNV | - | 1/47 |
19-9939831-A-G | UBL5 | c.178+281A>G | - | IntronicSNV | - | 4/4 |
1-207804141-A-C | CR1 | c.6107+175A>C | - | IntronicSNV | - | 38/38 |
11-121456962-C-T | SORL1 | c.3738C>T | p.Asn1246Asn | Synonymous | 27/48 | - |
11-121456962-C-G | SORL1 | c.3738C>G | p.Asn1246Lys | Missense | 27/48 | - |
2-25548550-G-A | DNMT3A | c.1-11697C>T | - | IntronicSNV | - | 1/22 |
19-45396144-C-T | TOMM40 | c.393C>T | p.Phe131Phe | Synonymous | 4/10 | - |
1-162781787-T-C | HSD17B7 | c.904-301T>C | - | IntronicSNV | - | 8/8 |
4-23849467-T-C | PPARGC1A | c.235-16093A>G | - | IntronicSNV | - | 2/12 |
6-28250913-A-G | PGBD1 | c.1-678A>G | - | IntronicSNV | - | 1/6 |
19-10332988-C-G | S1PR2 | c.*1532G>C | - | 3-UTRSNV | 2/2 | - |
12-13739553-T-C | GRIN2B | c.2011-14655A>G | - | IntronicSNV | - | 9/12 |
10-5138747-A-G | AKR1C3 | c.230A>G | p.Glu77Gly | Missense | 2/9 | - |
1-11181985-G-A | MTOR | c.6810+51C>T | - | IntronicSNV | - | 48/57 |
17-42018541-T-C | PPY | c.233A>G | p.Glu78Gly | Missense | 3/4 | - |
3-133484188-C-T | TF | c.1330+437C>T | - | IntronicSNV | - | 11/16 |
19-10254234-C-T | DNMT1 | c.3068+208G>A | - | IntronicSNV | - | 28/39 |
12-57585144-C-T | LRP1 | c.7278C>T | p.Ala2426Ala | Synonymous | 44/89 | - |
18-21152907-G-C | NPC1 | c.180+509C>G | - | IntronicSNV | - | 2/24 |
12-57585144-C-G | LRP1 | c.7278C>G | p.Ala2426Ala | Synonymous | 44/89 | - |
22-42206084-G-A | CCDC134 | c.225+80G>A | - | IntronicSNV | - | 3/6 |
X-38274719-T-C | OTC | c.1005+3467T>C | - | IntronicSNV | - | 9/9 |
22-42206084-G-C | CCDC134 | c.225+80G>C | - | IntronicSNV | - | 3/6 |
19-11163601-G-T | SMARCA4 | c.4425-5330G>T | - | IntronicSNV | - | 30/34 |
16-46697098-A-T | VPS35 | c.1648-24T>A | - | IntronicSNV | - | 13/16 |
3-138119952-T-C | MRAS | c.527+497T>C | - | IntronicSNV | - | 5/5 |
17-7288228-C-T | TNK1 | c.1137+155C>T | - | IntronicSNV | - | 7/12 |
17-7292726-C-T | TNK1 | c.*323C>T | - | 3-UTRSNV | 13/13 | - |
2-25489132-C-T | DNMT3A | c.639+8678G>A | - | IntronicSNV | - | 6/22 |
7-129663496-C-T | ZC3HC1 | c.1088G>A | p.Arg363His | Missense | 8/10 | - |
2-223388169-T-C | SGPP2 | c.559-1494T>C | - | IntronicSNV | - | 3/4 |
11-47261260-G-A | ACP2 | c.*407C>T | - | 3-UTRSNV | 11/11 | - |
6-52055335-C-T | IL17A | c.*1245C>T | - | 3-UTRSNV | 3/3 | - |
6-160961137-T-C | LPA | c.5673A>G | p.Ile1891Met | Missense | 36/39 | - |
5-6669762-T-C | SRD5A1 | c.*1381T>C | - | IntergenicSNV | 5/5 | - |
19-8285607-G-A | CERS4 | c.-2+9861G>A | - | intron_variant | - | 2/11 |
10-20440252-C-A | PLXDC2 | c.783+3421C>A | - | IntronicSNV | - | 6/13 |
10-20440252-C-T | PLXDC2 | c.783+3421C>T | - | IntronicSNV | - | 6/13 |
6-28263721-T-A | PGBD1 | c.643-872T>A | - | IntronicSNV | - | 4/6 |
3-133472227-A-C | TF | c.217-212A>C | - | IntronicSNV | - | 2/16 |
8-27455114-A-G | CLU | c.*644T>C | - | 3-UTRSNV | 9/9 | - |
19-45729275-G-A | EXOC3L2 | c.405-1104C>T | - | IntronicSNV | - | 5/9 |
18-29088958-C-T | DSG2 | c.46-9244C>T | - | IntronicSNV | - | 1/14 |
2-127841930-C-T | BIN1 | c.85-7648G>A | - | IntronicSNV | - | 1/18 |
11-78001248-C-T | GAB2 | c.76-9301G>A | - | IntronicSNV | - | 1/9 |
19-11227326-C-G | LDLR | c.1706-209C>G | - | IntronicSNV | - | 11/17 |
2-27499037-A-G | DNAJC5G | c.-222A>G | - | 5_prime_UTR_variant | 2/7 | - |
6-30596496-T-C | ATAT1 | c.537+289T>C | - | IntronicSNV | - | 6/10 |
17-42085150-T-C | NAGS | c.1451+9T>C | - | IntronicSNV | - | 6/6 |
11-36146708-G-A | LDLRAD3 | c.454+26697G>A | - | IntronicSNV | - | 4/5 |
7-143093824-G-T | EPHA1 | c.1772-221C>A | - | IntronicSNV | - | 10/17 |
16-68411283-C-T | SMPD3 | c.1-5199G>A | - | IntronicSNV | - | 1/8 |
19-10340912-A-G | S1PR2 | c.-43+968T>C | - | intron_variant | - | 1/1 |
11-121393226-C-T | SORL1 | c.1405-69C>T | - | IntronicSNV | - | 9/47 |
1-115880132-G-A | NGF | c.-137+693C>T | - | intron_variant | - | 1/2 |
11-47440758-G-A | PSMC3 | c.1128-10C>T | - | IntronicSNV | - | 10/11 |
10-72639800-A-G | SGPL1 | c.*2708A>G | - | 3-UTRSNV | 15/15 | - |
10-69649220-A-G | SIRT1 | c.789+339A>G | - | IntronicSNV | - | 3/8 |
12-13959441-C-T | GRIN2B | c.412-52592G>A | - | IntronicSNV | - | 2/12 |
10-72631204-A-G | SGPL1 | c.909+301A>G | - | IntronicSNV | - | 10/14 |
6-109767930-G-T | MICAL1 | c.2273C>A | p.Ala758Glu | Missense | 18/25 | - |
17-42085972-C-A | NAGS | c.*3C>A | - | 3-UTRSNV | 7/7 | - |
2-31748207-C-T | SRD5A2 | c.*3059G>A | - | 3_prime_UTR_variant | 6/6 | - |
17-42030965-C-G | PYY | c.1-114G>C | - | IntronicSNV | 4/7 | - |
22-46614170-G-A | PPARA | c.380G>A | p.Arg127Gln | Missense | 5/8 | - |
9-6255152-A-G | IL33 | c.612+599A>G | - | IntronicSNV | - | 7/7 |
20-23618427-C-G | CST3 | c.73G>C | p.Ala25Pro | Missense | 1/3 | - |
20-23618427-C-T | CST3 | c.73G>A | p.Ala25Thr | Missense | 1/3 | - |
19-9946917-A-G | PIN1 | c.58+839A>G | - | IntronicSNV | - | 1/3 |
19-10332988-C-A | S1PR2 | c.*1532G>T | - | 3-UTRSNV | 2/2 | - |
19-10332988-C-T | S1PR2 | c.*1532G>A | - | 3-UTRSNV | 2/2 | - |
10-5144768-C-T | AKR1C3 | c.772C>T | p.Arg258Cys | Missense | 7/9 | - |
19-9946917-A-T | PIN1 | c.58+839A>T | - | IntronicSNV | - | 1/3 |
19-10265312-T-C | DNMT1 | c.1734A>G | p.Thr578Thr | Synonymous | 20/40 | - |
19-10265312-T-A | DNMT1 | c.1734A>T | p.Thr578Thr | Synonymous | 20/40 | - |
16-68442906-G-A | SMPD3 | c.-268-22344C>T | - | intron_variant | - | 1/8 |
16-68442906-G-C | SMPD3 | c.-268-22344C>G | - | intron_variant | - | 1/8 |
1-101187219-A-C | VCAM1 | c.340+912A>C | - | IntronicSNV | - | 2/8 |
10-5139815-C-G | AKR1C3 | c.369+73C>G | - | IntronicSNV | - | 3/8 |
16-67469733-C-G | HSD11B2 | c.468C>G | p.Thr156Thr | Synonymous | 2/5 | - |
16-67469733-C-T | HSD11B2 | c.468C>T | p.Thr156Thr | Synonymous | 2/5 | - |
2-31757555-A-G | SRD5A2 | c.443-1013T>C | - | intron_variant | - | 3/5 |
10-5139815-C-T | AKR1C3 | c.369+73C>T | - | IntronicSNV | - | 3/8 |
19-1058176-A-G | ABCA7 | c.5057A>G | p.Gln1686Arg | Missense | 37/47 | - |
10-5139815-C-A | AKR1C3 | c.369+73C>A | - | IntronicSNV | - | 3/8 |
16-68414116-A-G | SMPD3 | c.1-8032T>C | - | IntronicSNV | - | 1/8 |
11-60070176-A-G | MS4A4A | c.387+1646A>G | - | IntronicSNV | - | 4/5 |
2-127851697-A-G | BIN1 | c.84+12739T>C | - | IntronicSNV | - | 1/18 |
19-45404431-T-C | TOMM40 | c.844-34T>C | - | IntronicSNV | - | 8/9 |
2-217528609-A-T | IGFBP2 | c.814-54A>T | - | IntronicSNV | - | 3/3 |
2-217528609-A-G | IGFBP2 | c.814-54A>G | - | IntronicSNV | - | 3/3 |
11-60059810-A-G | MS4A4A | c.154A>G | p.Lys52Glu | Missense | 2/6 | - |
19-45716197-A-G | EXOC3L2 | c.*130T>C | - | 3-UTRSNV | 10/10 | - |
6-109764535-G-T | SMPD2 | c.795G>T | p.Arg265Ser | Missense | 9/10 | - |
18-21133937-G-A | NPC1 | c.1553+785C>T | - | IntronicSNV | - | 9/24 |
22-46581385-C-T | PPARA | c.1-12896C>T | - | IntronicSNV | - | 2/7 |
14-64888055-C-T | MTHFD1 | c.727+1412C>T | - | IntronicSNV | - | 8/27 |
4-23866016-C-A | PPARGC1A | c.234+20359G>T | - | IntronicSNV | - | 2/12 |
4-23866016-C-T | PPARGC1A | c.234+20359G>A | - | IntronicSNV | - | 2/12 |
2-31767131-A-G | SRD5A2 | c.279-8295T>C | - | intron_variant | - | 2/5 |
2-223317212-G-A | SGPP2 | c.220-22075G>A | - | IntronicSNV | - | 1/4 |
10-72602891-T-C | SGPL1 | c.28-1339T>C | - | IntronicSNV | - | 2/14 |
5-179260153-C-T | SQSTM1 | c.624C>T | p.Asp208Asp | Synonymous | 7/9 | - |
3-133484712-G-A | TF | c.1331-410G>A | - | IntronicSNV | - | 11/16 |
5-179260153-C-G | SQSTM1 | c.624C>G | p.Asp208Glu | Missense | 7/9 | - |
1-120054775-A-G | HSD3B1 | c.310+485A>G | - | IntronicSNV | - | 3/3 |
11-85683554-G-A | PICALM | c.1944+2197C>T | - | IntronicSNV | - | 19/19 |
5-7870973-A-G | MTRR | c.66A>G | p.Ile22Met | Missense | 2/15 | - |
7-143095378-T-C | EPHA1 | c.1464+36A>G | - | IntronicSNV | - | 7/17 |
7-143095378-T-G | EPHA1 | c.1464+36A>C | - | IntronicSNV | - | 7/17 |
10-52086939-C-T | SGMS1 | c.741+26G>A | - | IntronicSNV | - | 8/10 |
5-54790559-C-T | PLPP1 | c.59-3617G>A | - | IntronicSNV | - | 1/5 |
5-54790559-C-A | PLPP1 | c.59-3617G>T | - | IntronicSNV | - | 1/5 |
7-143095153-C-T | EPHA1 | c.1475G>A | p.Arg492Gln | Missense | 8/18 | - |
10-5141609-C-T | AKR1C3 | c.538C>T | p.Pro180Ser | Missense | 5/9 | - |
2-68470425-T-A | PPP3R1 | c.3+8832A>T | - | IntronicSNV | - | 1/5 |
17-42045138-G-A | PYY | c.-462-1238C>T | - | intron_variant | - | 1/6 |
2-149493222-A-C | EPC2 | c.314-7969A>C | - | IntronicSNV | - | 2/13 |
16-68414975-C-G | SMPD3 | c.-207+5526G>C | - | intron_variant | - | 2/8 |
16-68414975-C-T | SMPD3 | c.-207+5526G>A | - | intron_variant | - | 2/8 |
11-85686096-T-G | PICALM | c.1840-241A>C | - | IntronicSNV | - | 18/19 |
10-94214580-A-C | IDE | c.2965-284T>G | - | IntronicSNV | - | 24/24 |
10-94214580-A-G | IDE | c.2965-284T>C | - | IntronicSNV | - | 24/24 |
10-104594507-A-G | CYP17A1 | c.666+35T>C | - | IntronicSNV | - | 3/7 |
14-88429304-C-T | GALC | c.1161+424G>A | - | IntronicSNV | - | 10/16 |
3-46009684-G-A | FYCO1 | c.1142C>T | p.Thr381Met | Missense | 8/18 | - |
10-52006771-G-C | ASAH2 | c.127+1473C>G | - | IntronicSNV | - | 1/19 |
22-46574010-G-A | PPARA | c.1-20271G>A | - | IntronicSNV | - | 2/7 |
10-52358285-G-A | SGMS1 | c.-683-8278C>T | - | intron_variant | - | 1/10 |
5-54750483-T-C | PLPP1 | c.495-12747A>G | - | IntronicSNV | - | 3/5 |
16-46696917-A-T | VPS35 | c.1805T>A | p.Val602Asp | Missense | 14/17 | - |
17-61558229-A-G | ACE | c.848-223A>G | - | IntronicSNV | - | 5/24 |
1-11855072-T-C | MTHFR | c.1031+83A>G | - | IntronicSNV | - | 6/11 |
6-26091185-A-T | HFE | c.193A>T | p.Ser65Cys | Missense | 2/6 | - |
19-10370133-G-A | MRPL4 | c.740-160G>A | - | IntronicSNV | - | 8/8 |
10-88053082-A-G | GRID1 | c.235+70616T>C | - | IntronicSNV | - | 2/15 |
15-101045447-A-C | CERS3 | c.1-3393T>G | - | IntronicSNV | - | 3/12 |
15-101045447-A-G | CERS3 | c.1-3393T>C | - | IntronicSNV | - | 3/12 |
X-91393737-A-G | PCDH11X | c.3034-62637A>G | - | IntronicSNV | - | 2/5 |
3-46034086-G-A | FYCO1 | c.-113+3128C>T | - | intron_variant | - | 1/17 |
10-5144037-T-G | AKR1C3 | c.571-256T>G | - | IntronicSNV | - | 5/8 |
10-5144037-T-A | AKR1C3 | c.571-256T>A | - | IntronicSNV | - | 5/8 |
18-21124945-C-A | NPC1 | c.1926G>T | p.Met642Ile | Missense | 12/25 | - |
18-21124945-C-G | NPC1 | c.1926G>C | p.Met642Ile | Missense | 12/25 | - |
2-25552792-T-G | DNMT3A | c.-178+11903A>C | - | intron_variant | - | 1/22 |
2-25552792-T-C | DNMT3A | c.-178+11903A>G | - | intron_variant | - | 1/22 |
16-68473462-C-T | SMPD3 | c.-269+8794G>A | - | intron_variant | - | 1/8 |
11-236091-G-A | SIRT3 | c.-146+103C>T | - | intron_variant | - | 1/6 |
19-51739767-A-C | CD33 | c.924+836A>C | - | IntronicSNV | - | 6/6 |
1-206946897-T-C | IL19 | c.-35+2474T>C | - | intron_variant | - | 1/6 |
11-60072784-G-A | MS4A4A | c.388-789G>A | - | IntronicSNV | - | 4/5 |
15-78789488-C-T | IREB2 | c.2616C>T | p.Ala872Ala | Synonymous | 21/22 | - |
2-149520186-T-C | EPC2 | c.816-53T>C | - | IntronicSNV | - | 5/13 |
15-74643034-A-G | CYP11A1 | c.270-2638T>C | - | IntronicSNV | - | 1/8 |
22-46615144-G-A | PPARA | c.509-565G>A | - | IntronicSNV | - | 5/7 |
3-45983654-G-A | FYCO1 | c.3945-5619C>T | - | IntronicSNV | - | 14/17 |
10-94353278-G-T | KIF11 | c.77+69G>T | - | IntronicSNV | - | 1/21 |
3-12400963-A-G | PPARG | c.1-20242A>G | - | IntronicSNV | - | 1/6 |
17-7286326-T-C | TNK1 | c.81T>C | p.Leu27Leu | Synonymous | 2/13 | - |
3-133485830-C-G | TF | c.1486+553C>G | - | IntronicSNV | - | 12/16 |
3-133485830-C-T | TF | c.1486+553C>T | - | IntronicSNV | - | 12/16 |
10-52070947-T-C | SGMS1 | c.895+75A>G | - | IntronicSNV | - | 9/10 |
17-44105395-A-C | MAPT | c.*3858A>C | - | 3-UTRSNV | 14/14 | - |
7-24327677-G-T | NPY | c.189-1441G>T | - | IntronicSNV | - | 2/3 |
8-143961005-T-C | CYP11B1 | c.225A>G | p.Leu75Leu | Synonymous | 1/9 | - |
X-91579524-A-G | PCDH11X | c.3115-63210A>G | - | IntronicSNV | - | 3/5 |
6-12927544-C-G | PHACTR1 | c.251-126053C>G | - | IntronicSNV | - | 4/14 |
19-1068738-G-A | ARHGAP45 | c.464G>A | p.Arg155His | Missense | 2/23 | - |
19-1068738-G-C | ARHGAP45 | c.464G>C | p.Arg155Pro | Missense | 2/23 | - |
16-46728952-A-C | ORC6 | c.450-522A>C | - | IntronicSNV | - | 4/6 |
16-72108093-G-A | HPR | c.92-90G>A | - | IntronicSNV | - | 2/4 |
15-74635368-C-T | CYP11A1 | c.940G>A | p.Glu314Lys | Missense | 5/9 | - |
10-17188184-A-C | TRDMT1 | c.*2855T>G | - | 3-UTRSNV | 11/11 | - |
11-36103228-A-G | LDLRAD3 | c.219A>G | p.Pro73Pro | Synonymous | 3/6 | - |
8-143994041-C-T | CYP11B2 | c.1303G>A | p.Gly435Ser | Missense | 8/9 | - |
17-42423263-C-T | GRN | c.-8+561C>T | - | intron_variant | - | 1/12 |
1-156818647-T-A | INSRR | c.1571+66A>T | - | IntronicSNV | - | 7/21 |
1-156818647-T-C | INSRR | c.1571+66A>G | - | IntronicSNV | - | 7/21 |
15-51558731-G-A | CYP19A1 | c.1-23622C>T | - | IntronicSNV | - | 1/9 |
X-38265777-C-T | OTC | c.664-2218C>T | - | IntronicSNV | - | 6/9 |
11-78172115-G-C | NARS2 | c.1164+4807C>G | - | IntronicSNV | - | 11/13 |
11-78172115-G-A | NARS2 | c.1164+4807C>T | - | IntronicSNV | - | 11/13 |
10-75260183-T-C | USP54 | c.4495+230A>G | - | IntronicSNV | - | 21/21 |
19-1038222-C-G | CNN2 | c.*323C>G | - | 3-UTRSNV | 7/7 | - |
14-74957153-T-C | NPC2 | c.82+2743A>G | - | IntronicSNV | - | 1/4 |
2-31779404-T-A | SRD5A2 | c.279-20568A>T | - | intron_variant | - | 2/5 |
17-42082641-C-A | NAGS | c.426+184C>A | - | IntronicSNV | - | 1/6 |
17-42082641-C-T | NAGS | c.426+184C>T | - | IntronicSNV | - | 1/6 |
2-169533692-C-T | CERS6 | c.466-13852C>T | - | IntronicSNV | - | 4/9 |
2-169533692-C-A | CERS6 | c.466-13852C>A | - | IntronicSNV | - | 4/9 |
2-169533692-C-G | CERS6 | c.466-13852C>G | - | IntronicSNV | - | 4/9 |
17-74383040-T-C | SPHK1 | c.570T>C | p.Asp190Asp | Synonymous | 6/6 | - |
2-68411414-G-A | PPP3R1 | c.465+2186C>T | - | IntronicSNV | - | 5/5 |
11-36206672-C-T | LDLRAD3 | c.455-41963C>T | - | IntronicSNV | - | 4/5 |
11-36206672-C-A | LDLRAD3 | c.455-41963C>A | - | IntronicSNV | - | 4/5 |
5-6657494-C-T | SRD5A1 | c.562+1202C>T | - | IntronicSNV | - | 3/4 |
2-127814835-T-C | BIN1 | c.1131+214A>G | - | IntronicSNV | - | 12/18 |
21-27269932-C-T | APP | c.2017G>A | p.Ala673Thr | Missense | 16/18 | - |
4-23862933-A-C | PPARGC1A | c.234+23442T>G | - | IntronicSNV | - | 2/12 |
4-23862933-A-T | PPARGC1A | c.234+23442T>A | - | IntronicSNV | - | 2/12 |
10-104592675-G-C | CYP17A1 | c.969+75C>G | - | IntronicSNV | - | 5/7 |
3-45996843-T-C | FYCO1 | c.3842A>G | p.Asp1281Gly | Missense | 14/18 | - |
8-143959250-T-C | CYP11B1 | c.396-612A>G | - | IntronicSNV | - | 2/8 |
3-45996843-T-G | FYCO1 | c.3842A>C | p.Asp1281Ala | Missense | 14/18 | - |
8-143995761-C-T | CYP11B2 | c.873G>A | p.Ala291Ala | Synonymous | 5/9 | - |
16-46703283-G-A | VPS35 | c.1525-319C>T | - | IntronicSNV | - | 12/16 |
X-91494654-A-G | PCDH11X | c.3114+38200A>G | - | IntronicSNV | - | 3/5 |
12-13941877-A-C | GRIN2B | c.412-35028T>G | - | IntronicSNV | - | 2/12 |
3-133484712-G-T | TF | c.1331-410G>T | - | IntronicSNV | - | 11/16 |
3-133467696-C-T | TF | c.216+268C>T | - | IntronicSNV | - | 2/16 |
4-23830238-A-G | PPARGC1A | c.553-11T>C | - | IntronicSNV | - | 4/12 |
3-12418612-C-T | PPARG | c.1-2593C>T | - | IntronicSNV | - | 1/6 |
1-53716416-G-T | LRP8 | c.2622C>A | p.Asp874Glu | Missense | 17/19 | - |
17-74383678-G-A | SPHK1 | c.*11G>A | - | 3-UTRSNV | 6/6 | - |
17-40967982-C-A | BECN1 | c.774G>T | p.Gln258His | Missense | 8/12 | - |
6-109770999-G-T | MICAL1 | c.1308-13C>A | - | IntronicSNV | - | 9/24 |
3-12346962-G-C | PPARG | c.-3+17443G>C | - | intron_variant | - | 1/6 |
3-12346962-G-A | PPARG | c.-3+17443G>A | - | intron_variant | - | 1/6 |
6-47452270-T-C | CD2AP | c.4+6286T>C | - | IntronicSNV | - | 1/17 |
10-5144768-C-A | AKR1C3 | c.772C>A | p.Arg258Ser | Missense | 7/9 | - |
11-121489416-G-A | SORL1 | c.5605-67G>A | - | IntronicSNV | - | 41/47 |
19-9958878-A-G | PIN1 | c.382+62A>G | - | IntronicSNV | - | 3/3 |
11-121367921-C-A | SORL1 | c.939+163C>A | - | IntronicSNV | - | 6/47 |
11-121367921-C-T | SORL1 | c.939+163C>T | - | IntronicSNV | - | 6/47 |
19-9949152-G-A | PIN1 | c.99G>A | p.Gln33Gln | Synonymous | 2/4 | - |
16-67469969-G-T | HSD11B2 | c.588G>T | p.Ala196Ala | Synonymous | 3/5 | - |
16-67469969-G-A | HSD11B2 | c.588G>A | p.Ala196Ala | Synonymous | 3/5 | - |
10-73596364-A-G | PSAP | c.41-2102T>C | - | IntronicSNV | - | 1/13 |
19-10398206-C-T | ICAM4 | c.395-6C>T | - | IntronicSNV | - | 1/2 |
22-46584984-A-G | PPARA | c.1-9297A>G | - | IntronicSNV | - | 2/7 |
10-52196945-C-A | SGMS1 | c.-312-3629G>T | - | intron_variant | - | 5/10 |
3-12407366-A-G | PPARG | c.1-13839A>G | - | IntronicSNV | - | 1/6 |
6-30608273-A-C | ATAT1 | c.584-39A>C | - | IntronicSNV | - | 7/10 |
10-108389111-A-G | SORCS1 | c.2511T>C | p.Phe837Phe | Synonymous | 19/26 | - |
19-45322744-A-G | BCAM | c.1615A>G | p.Thr539Ala | Missense | 12/15 | - |
17-42437682-C-T | FAM171A2 | c.119-182G>A | - | IntronicSNV | - | 1/7 |
17-42437682-C-A | FAM171A2 | c.119-182G>T | - | IntronicSNV | - | 1/7 |
10-52112030-A-G | SGMS1 | c.1-8156T>C | - | IntronicSNV | - | 6/10 |
17-42049108-T-C | PYY | c.1-18257A>G | - | IntronicSNV | - | 1/6 |
17-42064987-A-C | PYY | c.-463+16772T>G | - | intron_variant | - | 1/6 |
13-33628193-G-T | KL | c.1109G>T | p.Cys370Phe | Missense | 2/5 | - |
10-52315428-A-C | SGMS1 | c.-589+34485T>G | - | intron_variant | - | 2/10 |
5-179264731-T-C | SQSTM1 | c.*1138T>C | - | 3-UTRSNV | 9/9 | - |
10-72625741-A-G | SGPL1 | c.616-2361A>G | - | IntronicSNV | - | 7/14 |
19-1043748-A-G | ABCA7 | c.955A>G | p.Thr319Ala | Missense | 10/47 | - |
12-57567762-C-A | LRP1 | c.3546C>A | p.Cys1182* | Nonsense | 22/89 | - |
5-6643847-G-A | SRD5A1 | c.294-8108G>A | - | IntronicSNV | - | 1/4 |
17-42056745-C-A | PYY | c.-462-12845G>T | - | intron_variant | - | 1/6 |
10-72636450-T-G | SGPL1 | c.1566+32T>G | - | IntronicSNV | - | 14/14 |
11-36056922-C-T | LDLRAD3 | c.47-731C>T | - | IntronicSNV | - | 1/5 |
11-36056922-C-A | LDLRAD3 | c.47-731C>A | - | IntronicSNV | - | 1/5 |
13-33594156-A-G | KL | c.819+2759A>G | - | IntronicSNV | - | 1/4 |
6-30608273-A-G | ATAT1 | c.584-39A>G | - | IntronicSNV | - | 7/10 |
19-11210912-C-T | LDLR | c.81C>T | p.Cys27Cys | Synonymous | 2/18 | - |
17-42065925-A-G | PYY | c.-463+15834T>C | - | intron_variant | - | 1/6 |
16-87437107-G-A | MAP1LC3B | c.*404G>A | - | 3-UTRSNV | 4/4 | - |
17-42030409-G-A | PYY | c.270-61C>T | - | IntronicSNV | - | 6/6 |
19-33699031-C-T | LRP3 | c.*550C>T | - | 3-UTRSNV | 7/7 | - |
11-77936166-A-G | GAB2 | c.1290T>C | p.Val430Val | Synonymous | 5/10 | - |
3-195777211-C-A | TFRC | c.*1602G>T | - | 3-UTRSNV | 19/19 | - |
4-23802836-A-G | PPARGC1A | c.2293+517T>C | - | IntronicSNV | - | 12/12 |
7-143099107-T-C | EPHA1 | c.151-409A>G | - | IntronicSNV | - | 2/17 |
3-133475563-G-T | TF | c.692-112G>T | - | IntronicSNV | - | 6/16 |
12-51411353-G-T | SLC11A2 | c.1-6842C>A | - | IntronicSNV | - | 1/15 |
1-207784968-A-G | CR1 | c.4946-54A>G | - | IntronicSNV | - | 29/38 |
9-90192991-C-T | DAPK1 | c.63-26878C>T | - | IntronicSNV | - | 2/25 |
2-234068476-C-T | INPP5D | c.1056+1411C>T | - | intron_variant | - | 11/27 |
19-11210912-C-G | LDLR | c.81C>G | p.Cys27Trp | Missense | 2/18 | - |
19-11210912-C-A | LDLR | c.81C>A | p.Cys27* | Nonsense | 2/18 | - |
11-85690012-C-G | PICALM | c.1779+2160G>C | - | IntronicSNV | - | 17/19 |
11-121389502-T-G | SORL1 | c.1212-1864T>G | - | IntronicSNV | - | 8/47 |
10-94354204-T-C | KIF11 | c.77+995T>C | - | IntronicSNV | - | 1/21 |
10-94354204-T-G | KIF11 | c.77+995T>G | - | IntronicSNV | - | 1/21 |
6-52054249-G-A | IL17A | c.*159G>A | - | 3-UTRSNV | 3/3 | - |
15-51570853-G-A | CYP19A1 | c.1-35744C>T | - | IntronicSNV | - | 1/9 |
15-74637867-A-T | CYP11A1 | c.426-283T>A | - | IntronicSNV | - | 2/8 |
13-33635939-T-A | KL | c.2701+22T>A | - | IntronicSNV | - | 4/4 |
3-46003736-G-T | FYCO1 | c.3418C>A | p.Arg1140Arg | Synonymous | 11/18 | - |
12-57591226-T-C | LRP1 | c.9162+59T>C | - | IntronicSNV | - | 57/88 |
12-57591226-T-A | LRP1 | c.9162+59T>A | - | IntronicSNV | - | 57/88 |
3-133474003-C-G | TF | c.503-204C>G | - | IntronicSNV | - | 4/16 |
3-12434608-G-T | PPARG | c.535+357G>T | - | IntronicSNV | - | 4/6 |
17-61556554-G-C | ACE | c.511+93G>C | - | IntronicSNV | - | 3/24 |
1-11205058-C-T | MTOR | c.4731G>A | p.Ala1577Ala | Synonymous | 33/58 | - |
11-27679738-C-A | BDNF | c.374G>T | p.Arg125Met | Missense | 1/1 | - |
17-40963904-G-A | BECN1 | c.1041-89C>T | - | intron_variant | - | 10/11 |
X-91496587-A-G | PCDH11X | c.3114+40133A>G | - | IntronicSNV | - | 3/5 |
8-17936029-G-A | ASAH1 | c.127-2933C>T | - | IntronicSNV | - | 1/13 |
6-151207078-G-A | MTHFD1L | c.643+208G>A | - | IntronicSNV | - | 6/27 |
17-40970817-G-T | BECN1 | c.339C>A | p.Ser113Arg | Missense | 5/12 | - |
6-151207078-G-T | MTHFD1L | c.643+208G>T | - | IntronicSNV | - | 6/27 |
7-99620554-G-A | ZKSCAN1 | c.1-576G>A | - | IntronicSNV | - | 1/5 |
11-36182280-T-A | LDLRAD3 | c.454+62269T>A | - | IntronicSNV | - | 4/5 |
11-36182280-T-C | LDLRAD3 | c.454+62269T>C | - | IntronicSNV | - | 4/5 |
15-51502844-A-C | CYP19A1 | c.*161T>G | - | 3-UTRSNV | 10/10 | - |
11-36033069-T-C | LDLRAD3 | c.47-24584T>C | - | IntronicSNV | - | 1/5 |
20-44534651-G-A | PLTP | c.705+256C>T | - | IntronicSNV | - | 8/15 |
19-10395683-A-G | ICAM1 | c.1405A>G | p.Lys469Glu | Missense | 6/7 | - |
2-217507926-A-T | IGFBP2 | c.442+9238A>T | - | IntronicSNV | - | 1/3 |
2-217507926-A-G | IGFBP2 | c.442+9238A>G | - | IntronicSNV | - | 1/3 |
22-46626506-G-A | PPARA | c.712-1183G>A | - | IntronicSNV | - | 6/7 |
10-108914445-C-G | SORCS1 | c.558+9282G>C | - | IntronicSNV | - | 1/25 |
20-55018260-T-C | CASS4 | c.460-2696T>C | - | IntronicSNV | - | 2/5 |
22-42190309-A-G | MEI1 | c.3428-66A>G | - | IntronicSNV | - | 27/30 |
7-99703958-T-C | AP4M1 | c.1025+44T>C | - | IntronicSNV | - | 13/14 |
7-99703958-T-G | AP4M1 | c.1025+44T>G | - | IntronicSNV | - | 13/14 |
19-281360-C-T | PLPP2 | c.*28G>A | - | 3-UTRSNV | 6/6 | - |
16-68433045-T-A | SMPD3 | c.-268-12483A>T | - | intron_variant | - | 1/8 |
16-68433045-T-C | SMPD3 | c.-268-12483A>G | - | intron_variant | - | 1/8 |
2-25458546-C-T | DNMT3A | c.2597+30G>A | - | IntronicSNV | - | 22/22 |
2-169418646-C-G | CERS6 | c.407+814C>G | - | IntronicSNV | - | 3/9 |
10-17210822-A-C | TRDMT1 | c.251+18T>G | - | IntronicSNV | - | 3/10 |
3-148896541-A-G | CP | c.2662-123T>C | - | IntronicSNV | - | 15/18 |
14-92926952-G-T | SLC24A4 | c.1255+4000G>T | - | IntronicSNV | - | 12/16 |
10-72646337-C-T | PCBD1 | c.4-651G>A | - | IntronicSNV | - | 1/3 |
15-101067542-T-C | CERS3 | c.-92+1476A>G | - | intron_variant | - | 2/12 |
9-140049536-G-A | GRIN1 | c.672-1585G>A | - | IntronicSNV | - | 4/19 |
13-33628193-G-C | KL | c.1109G>C | p.Cys370Ser | Missense | 2/5 | - |
17-5137047-G-A | SCIMP | c.21+983C>T | - | IntronicSNV | - | 1/4 |
7-22767433-A-T | IL6 | c.210+180A>T | - | IntronicSNV | - | 2/4 |
9-114684709-A-G | UGCG | c.241-420A>G | - | IntronicSNV | - | 2/8 |
16-68468658-C-T | SMPD3 | c.-269+13598G>A | - | intron_variant | - | 1/8 |
19-8316310-T-C | CERS4 | c.173+177T>C | - | IntronicSNV | - | 3/11 |
12-51419621-T-G | SLC11A2 | c.-39+472A>C | - | intron_variant | - | 1/15 |
12-51419621-T-C | SLC11A2 | c.-39+472A>G | - | intron_variant | - | 1/15 |
19-11200412-C-T | LDLR | c.67+121C>T | - | IntronicSNV | - | 1/17 |
19-11200412-C-G | LDLR | c.67+121C>G | - | IntronicSNV | - | 1/17 |
19-1064485-C-G | ABCA7 | c.6044+233C>G | - | IntronicSNV | - | 45/46 |
1-162772985-A-G | HSD17B7 | c.643-236A>G | - | IntronicSNV | - | 5/8 |
11-77992967-A-G | GAB2 | c.76-1020T>C | - | IntronicSNV | - | 1/9 |
1-150945607-T-A | CERS2 | c.-2+1488A>T | - | intron_variant | - | 1/10 |
10-108862127-A-G | SORCS1 | c.558+61600T>C | - | IntronicSNV | - | 1/25 |
18-21116700-A-G | NPC1 | c.3182T>C | p.Ile1061Thr | Missense | 21/25 | - |
8-27468862-C-G | CLU | c.1-774G>C | - | IntronicSNV | - | 1/8 |
19-1044712-A-G | ABCA7 | c.1184A>G | p.His395Arg | Missense | 11/47 | - |
17-61566031-G-A | ACE | c.2328G>A | p.Thr776Thr | Synonymous | 16/25 | - |
19-49469087-T-C | FTL | c.163T>C | p.Leu55Leu | Synonymous | 2/4 | - |
8-27456253-T-C | CLU | c.1165-101A>G | - | IntronicSNV | - | 7/8 |
16-46713692-C-T | VPS35 | c.507-624G>A | - | IntronicSNV | - | 5/16 |
1-11852300-C-G | MTHFR | c.1632+35G>C | - | IntronicSNV | - | 10/11 |
10-20481262-G-A | PLXDC2 | c.1061+14924G>A | - | IntronicSNV | - | 9/13 |
13-33592409-C-G | KL | c.819+1012C>G | - | IntronicSNV | - | 1/4 |
1-119965519-C-T | HSD3B2 | c.*276C>T | - | 3-UTRSNV | 4/4 | - |
11-116648917-G-C | ZPR1 | c.*724C>G | - | IntergenicSNV | 14/14 | - |
6-151206166-C-T | MTHFD1L | c.543-604C>T | - | IntronicSNV | - | 5/27 |
8-27455442-T-C | CLU | c.*316A>G | - | 3-UTRSNV | 9/9 | - |
13-33592070-A-G | KL | c.819+673A>G | - | IntronicSNV | - | 1/4 |
6-30596135-A-G | ATAT1 | c.465A>G | p.Ala155Ala | Synonymous | 6/11 | - |
17-47592134-G-A | NGFR | c.*1763G>A | - | 3-UTRSNV | 6/6 | - |
14-88409527-G-T | GALC | c.1671-1625C>A | - | IntronicSNV | - | 14/16 |
11-78100244-C-A | GAB2 | c.75+28448G>T | - | IntronicSNV | - | 1/9 |
11-78100244-C-T | GAB2 | c.75+28448G>A | - | IntronicSNV | - | 1/9 |
15-74638965-A-C | CYP11A1 | c.425+1276T>G | - | IntronicSNV | - | 2/8 |
7-22768572-C-G | IL6 | c.324+147C>G | - | IntronicSNV | - | 3/4 |
14-88415845-G-A | GALC | c.1338+344C>T | - | IntronicSNV | - | 12/16 |
2-149454809-A-G | EPC2 | c.313+6867A>G | - | IntronicSNV | - | 2/13 |
15-101083687-G-A | CERS3 | c.-355+1169C>T | - | intron_variant | - | 1/12 |
10-52279428-C-A | SGMS1 | c.-498+163G>T | - | intron_variant | - | 3/10 |
3-12429468-G-C | PPARG | c.397-4645G>C | - | IntronicSNV | - | 3/6 |
3-12429468-G-A | PPARG | c.397-4645G>A | - | IntronicSNV | - | 3/6 |
11-214544-C-T | RIC8A | c.*194C>T | - | 3-UTRSNV | 10/10 | - |
3-46009487-G-T | FYCO1 | c.1339C>A | p.Arg447Ser | Missense | 8/18 | - |
3-46009487-G-A | FYCO1 | c.1339C>T | p.Arg447Cys | Missense | 8/18 | - |
10-72631626-C-T | SGPL1 | c.942C>T | p.Val314Val | Synonymous | 11/15 | - |
1-206946634-A-G | IL19 | c.-35+2211A>G | - | intron_variant | - | 1/6 |
6-32007587-T-A | CYP21A2 | c.713T>A | p.Val238Glu | Missense | 6/10 | - |
11-121380965-G-A | SORL1 | c.940-2747G>A | - | IntronicSNV | - | 6/47 |
12-7169661-C-T | C1S | c.6-118C>T | - | IntronicSNV | - | 2/11 |
2-25493187-G-C | DNMT3A | c.639+4623C>G | - | IntronicSNV | - | 6/22 |
2-25493187-G-A | DNMT3A | c.639+4623C>T | - | IntronicSNV | - | 6/22 |
14-64871210-C-T | MTHFD1 | c.126+3615C>T | - | IntronicSNV | - | 2/27 |
6-109771955-A-G | MICAL1 | c.934-195T>C | - | IntronicSNV | - | 7/24 |
9-32409442-G-A | ACO1 | c.404+793G>A | - | IntronicSNV | - | 4/20 |
14-64185532-T-C | SGPP1 | c.684+8447A>G | - | IntronicSNV | - | 1/2 |
14-64185532-T-A | SGPP1 | c.684+8447A>T | - | IntronicSNV | - | 1/2 |
10-52348894-G-T | SGMS1 | c.-589+1019C>A | - | intron_variant | - | 2/10 |
3-46008087-G-T | FYCO1 | c.2739C>A | p.Cys913* | Nonsense | 8/18 | - |
1-101198708-C-T | VCAM1 | c.1792+468C>T | - | IntronicSNV | - | 7/8 |
6-47453378-G-C | CD2AP | c.4+7394G>C | - | IntronicSNV | - | 1/17 |
5-179260009-G-A | SQSTM1 | c.503-23G>A | - | IntronicSNV | - | 6/8 |
6-47504513-A-G | CD2AP | c.319+3022A>G | - | IntronicSNV | - | 3/17 |
2-169323540-C-T | CERS6 | c.170+10412C>T | - | IntronicSNV | - | 1/9 |
15-51548310-A-G | CYP19A1 | c.1-13201T>C | - | IntronicSNV | - | 1/9 |
5-6643886-C-T | SRD5A1 | c.294-8069C>T | - | IntronicSNV | - | 1/4 |
5-6643886-C-A | SRD5A1 | c.294-8069C>A | - | IntronicSNV | - | 1/4 |
22-46561274-A-C | PPARA | c.-43+13401A>C | - | intron_variant | - | 2/7 |
12-51381718-C-T | SLC11A2 | c.*390G>A | - | 3-UTRSNV | 16/16 | - |
18-21124801-A-C | NPC1 | c.1947+123T>G | - | IntronicSNV | - | 12/24 |
10-73586585-A-G | PSAP | c.721-935T>C | - | IntronicSNV | - | 6/13 |
4-158277682-A-C | GRIA2 | c.2044-3366A>C | - | IntronicSNV | - | 12/15 |
16-46736263-C-G | MYLK3 | c.*5353G>C | - | 3-UTRSNV | 13/13 | - |
9-6242950-C-G | IL33 | c.91+1165C>G | - | IntronicSNV | - | 2/7 |
9-6242950-C-T | IL33 | c.91+1165C>T | - | IntronicSNV | - | 2/7 |
20-31352927-T-C | DNMT3B | c.-7+2422T>C | - | intron_variant | - | 1/22 |
12-14055660-A-C | GRIN2B | c.1-36518T>G | - | IntronicSNV | - | 1/12 |
11-217140-T-C | SIRT3 | c.754-422A>G | - | IntronicSNV | - | 6/6 |
7-107334513-T-A | SLC26A4 | c.1264-335T>A | - | IntronicSNV | - | 10/20 |
17-47591035-C-G | NGFR | c.*664C>G | - | 3-UTRSNV | 6/6 | - |
17-47591035-C-A | NGFR | c.*664C>A | - | 3-UTRSNV | 6/6 | - |
15-100988564-G-A | CERS3 | c.999+7534C>T | - | IntronicSNV | - | 12/12 |
22-46594271-T-C | PPARA | c.1-10T>C | - | 5-UTRSNV | 3/8 | - |
11-59948374-C-G | MS4A6A | c.231+680G>C | - | IntronicSNV | - | 3/6 |
7-22768479-C-T | IL6 | c.324+54C>T | - | IntronicSNV | - | 3/4 |
22-42218856-A-G | CCDC134 | c.565-2846A>G | - | IntronicSNV | - | 6/6 |
22-42218856-A-C | CCDC134 | c.565-2846A>C | - | IntronicSNV | - | 6/6 |
13-33592193-C-A | KL | c.819+796C>A | - | IntronicSNV | - | 1/4 |
10-73576307-C-G | PSAP | c.*891G>C | - | 3-UTRSNV | 14/14 | - |
2-217521648-C-T | IGFBP2 | c.443-3632C>T | - | IntronicSNV | - | 1/3 |
10-52262468-T-C | SGMS1 | c.-498+17123A>G | - | intron_variant | - | 3/10 |
10-52188013-C-T | SGMS1 | c.-232+5223G>A | - | intron_variant | - | 6/10 |
16-68421944-C-T | SMPD3 | c.1-15860G>A | - | IntronicSNV | - | 1/8 |
16-10033918-A-T | GRIN2A | c.415-1510T>A | - | IntronicSNV | - | 3/13 |
13-33634983-C-A | KL | c.1767C>A | p.His589Gln | Missense | 4/5 | - |
15-101079031-T-G | CERS3 | c.-355+5825A>C | - | intron_variant | - | 1/12 |
15-79080234-C-T | ADAMTS7 | c.1322+339G>A | - | IntronicSNV | - | 8/23 |
10-108553621-C-G | SORCS1 | c.727-17171G>C | - | IntronicSNV | - | 3/25 |
10-108553621-C-A | SORCS1 | c.727-17171G>T | - | IntronicSNV | - | 3/25 |
13-33634983-C-T | KL | c.1767C>T | p.His589His | Synonymous | 4/5 | - |
2-169610232-A-G | CERS6 | c.846-11870A>G | - | IntronicSNV | - | 8/9 |
20-31396536-A-T | DNMT3B | c.*827A>T | - | 3-UTRSNV | 23/23 | - |
9-87340518-T-A | NTRK2 | c.853+1247T>A | - | IntronicSNV | - | 10/14 |
2-31803403-T-C | SRD5A2 | c.278+2287A>G | - | intron_variant | - | 2/5 |
2-31803403-T-A | SRD5A2 | c.278+2287A>T | - | intron_variant | - | 2/5 |
7-24324759-T-G | NPY | c.1-101T>G | - | IntronicSNV | - | 1/3 |
4-164267923-T-C | NPY5R | c.-80-681T>C | - | intron_variant | - | 2/3 |
X-38256679-G-A | OTC | c.387-3849G>A | - | IntronicSNV | - | 4/9 |
1-154544651-G-A | CHRNB2 | c.1338+14G>A | - | IntronicSNV | - | 5/5 |
11-121414476-G-T | SORL1 | c.1864+41G>T | - | IntronicSNV | - | 13/47 |
19-45402477-C-A | TOMM40 | c.644-1510C>A | - | IntronicSNV | - | 6/9 |
2-217506265-A-G | IGFBP2 | c.442+7577A>G | - | IntronicSNV | - | 1/3 |
4-23798818-G-A | PPARGC1A | c.2294-1270C>T | - | IntronicSNV | - | 12/12 |
10-94298331-G-A | IDE | c.99-1024C>T | - | IntronicSNV | - | 1/24 |
19-1041352-A-G | ABCA7 | c.1-9A>G | - | 5-UTRSNV | 2/47 | - |
2-27498844-G-A | DNAJC5G | c.-285-130G>A | - | intron_variant | - | 1/6 |
10-88029586-C-A | GRID1 | c.236-63181G>T | - | IntronicSNV | - | 2/15 |
8-143954290-G-A | CYP11B1 | c.*1499C>T | - | 3-UTRSNV | 9/9 | - |
17-61557823-G-T | ACE | c.781G>T | p.Ala261Ser | Missense | 5/25 | - |
11-73718063-C-T | UCP3 | c.25G>A | p.Val9Met | Missense | 2/7 | - |
17-61557823-G-A | ACE | c.781G>A | p.Ala261Thr | Missense | 5/25 | - |
17-61562373-A-G | ACE | c.1922-224A>G | - | IntronicSNV | - | 12/24 |
2-217527963-A-G | IGFBP2 | c.814-700A>G | - | IntronicSNV | - | 3/3 |
22-46627780-C-T | PPARA | c.803C>T | p.Ala268Val | Missense | 7/8 | - |
15-74635248-G-A | CYP11A1 | c.990+70C>T | - | IntronicSNV | - | 5/8 |
X-91523596-A-T | PCDH11X | c.3114+67142A>T | - | IntronicSNV | - | 3/5 |
19-45448465-T-G | APOC4 | c.287T>G | p.Leu96Arg | Missense | 3/3 | - |
5-6667084-T-A | SRD5A1 | c.714-1231T>A | - | IntronicSNV | - | 4/4 |
5-6667084-T-C | SRD5A1 | c.714-1231T>C | - | IntronicSNV | - | 4/4 |
1-53732138-C-T | LRP8 | c.1427+7G>A | - | IntronicSNV | - | 9/18 |
1-53732138-C-A | LRP8 | c.1427+7G>T | - | IntronicSNV | - | 9/18 |
6-32007459-A-C | CYP21A2 | c.651+35A>C | - | IntronicSNV | - | 5/9 |
7-22769773-G-C | IL6 | c.471+494G>C | - | IntronicSNV | - | 4/4 |
10-20390641-G-T | PLXDC2 | c.541+33473G>T | - | IntronicSNV | - | 4/13 |
10-20390641-G-A | PLXDC2 | c.541+33473G>A | - | IntronicSNV | - | 4/13 |
6-151252985-G-A | MTHFD1L | c.1257-4955G>A | - | IntronicSNV | - | 11/27 |
19-11238548-A-T | LDLR | c.2312-136A>T | - | IntronicSNV | - | 15/17 |
19-11238548-A-G | LDLR | c.2312-136A>G | - | IntronicSNV | - | 15/17 |
1-115829943-C-G | NGF | c.1-527G>C | - | IntronicSNV | - | 2/2 |
1-115829943-C-A | NGF | c.1-527G>T | - | IntronicSNV | - | 2/2 |
19-1064485-C-T | ABCA7 | c.6044+233C>T | - | IntronicSNV | - | 45/46 |
10-104595248-G-A | CYP17A1 | c.298-99C>T | - | IntronicSNV | - | 1/7 |
1-53712727-C-T | LRP8 | c.2855G>A | p.Arg952Gln | Missense | 19/19 | - |
9-114660452-T-G | UGCG | c.98+859T>G | - | IntronicSNV | - | 1/8 |
13-33624889-A-C | KL | c.820-3015A>C | - | IntronicSNV | - | 1/4 |
15-78764285-A-G | IREB2 | c.883+19A>G | - | IntronicSNV | - | 7/21 |
1-209881373-G-T | HSD11B1 | c.517+900G>T | - | IntronicSNV | - | 4/5 |
11-77996403-C-A | GAB2 | c.76-4456G>T | - | IntronicSNV | - | 1/9 |
10-108407898-G-A | SORCS1 | c.2475+4242C>T | - | IntronicSNV | - | 18/25 |
10-90973492-G-A | LIPA | c.*1093C>T | - | 3-UTRSNV | 10/10 | - |
10-52068751-A-G | SGMS1 | c.896-843T>C | - | IntronicSNV | - | 9/10 |
1-207820612-A-G | CR1L | c.97+1937A>G | - | IntronicSNV | - | 1/11 |
19-9949402-C-T | PIN1 | c.271+78C>T | - | IntronicSNV | - | 2/3 |
13-33615948-T-G | KL | c.820-11956T>G | - | IntronicSNV | - | 1/4 |
6-26091179-C-T | HFE | c.187C>T | p.His63Tyr | Missense | 2/6 | - |
3-45960646-T-C | FYCO1 | c.*2611A>G | - | 3-UTRSNV | 18/18 | - |
11-77996403-C-G | GAB2 | c.76-4456G>C | - | IntronicSNV | - | 1/9 |
9-6256292-G-A | IL33 | c.*124G>A | - | 3-UTRSNV | 8/8 | - |
17-42426940-G-A | GRN | c.264+21G>A | - | IntronicSNV | - | 3/12 |
22-46591752-A-G | PPARA | c.1-2529A>G | - | IntronicSNV | - | 2/7 |
14-74963446-C-T | ISCA2 | c.*1743C>T | - | IntergenicSNV | 4/4 | - |
1-150941381-C-T | CERS2 | c.173+13G>A | - | IntronicSNV | - | 2/10 |
11-36077902-T-G | LDLRAD3 | c.193+20103T>G | - | IntronicSNV | - | 2/5 |
1-57036357-C-A | PLPP3 | c.139+8194G>T | - | IntronicSNV | - | 1/5 |
14-74948924-T-C | NPC2 | c.364-1442A>G | - | IntronicSNV | - | 3/4 |
17-40962240-C-T | BECN1 | c.*538G>A | - | 3-UTRSNV | 12/12 | - |
3-133467377-T-A | TF | c.165T>A | p.Ser55Arg | Missense | 2/17 | - |
11-36205268-A-G | LDLRAD3 | c.455-43367A>G | - | IntronicSNV | - | 4/5 |
19-1047002-A-C | ABCA7 | c.1824A>C | p.Ala608Ala | Synonymous | 14/47 | - |
19-1038445-C-T | CNN2 | c.*546C>T | - | 3-UTRSNV | 7/7 | - |
18-21115060-A-G | NPC1 | c.3477+373T>C | - | IntronicSNV | - | 22/24 |
12-14019157-C-T | GRIN2B | c.1-15G>A | - | 5-UTRSNV | 2/13 | - |
5-179250130-C-G | SQSTM1 | c.49+77C>G | - | IntronicSNV | - | 3/8 |
8-27462481-A-C | CLU | c.789T>G | p.His263Gln | Missense | 5/9 | - |
6-47556033-G-A | CD2AP | c.1108+6232G>A | - | IntronicSNV | - | 11/17 |
1-206949365-A-T | IL19 | c.-35+4942A>T | - | intron_variant | - | 1/6 |
2-170010985-T-C | LRP2 | c.12280A>G | p.Lys4094Glu | Missense | 66/79 | - |
5-78378410-A-T | BHMT2 | c.451-222A>T | - | IntronicSNV | - | 4/7 |
14-74961352-C-T | ISCA2 | c.291-177C>T | - | IntronicSNV | - | 3/3 |
19-1059004-A-G | ABCA7 | c.5401-18A>G | - | IntronicSNV | - | 39/46 |
14-64887711-G-A | MTHFD1 | c.727+1068G>A | - | IntronicSNV | - | 8/27 |
10-52065890-T-A | SGMS1 | c.*1012A>T | - | 3-UTRSNV | 11/11 | - |
8-143996539-T-C | CYP11B2 | c.518A>G | p.Lys173Arg | Missense | 3/9 | - |
10-104591393-G-T | CYP17A1 | c.1140-25C>A | - | IntronicSNV | - | 6/7 |
9-32425898-T-C | ACO1 | c.1251T>C | p.Tyr417Tyr | Synonymous | 11/21 | - |
19-45409167-C-G | APOE | c.-24+69C>G | - | intron_variant | - | 1/3 |
20-33139691-C-A | MAP1LC3A | c.52+1858C>A | - | IntronicSNV | - | 2/4 |
19-11222300-G-A | LDLR | c.1171G>A | p.Ala391Thr | Missense | 8/18 | - |
6-35034800-G-C | ANKS1A | c.2184+6770G>C | - | IntronicSNV | - | 13/23 |
13-33623164-G-A | KL | c.820-4740G>A | - | IntronicSNV | - | 1/4 |
11-73713442-T-C | UCP3 | c.825-871A>G | - | IntronicSNV | - | 6/6 |
19-51729594-T-C | CD33 | c.727T>C | p.Phe243Leu | Missense | 4/7 | - |
10-73605926-G-T | PSAP | c.40+5013C>A | - | IntronicSNV | - | 1/13 |
11-36090919-A-G | LDLRAD3 | c.194-12284A>G | - | IntronicSNV | - | 2/5 |
20-31386347-T-C | DNMT3B | c.1572T>C | p.Cys524Cys | Synonymous | 15/23 | - |
11-77966034-G-A | GAB2 | c.377-4588C>T | - | IntronicSNV | - | 2/9 |
9-114672325-A-G | UGCG | c.99-4560A>G | - | IntronicSNV | - | 1/8 |
1-237048500-A-G | MTR | c.2756A>G | p.Asp919Gly | Missense | 26/33 | - |
19-10268974-G-A | DNMT1 | c.1232+1360C>T | - | IntronicSNV | - | 16/39 |
19-51740839-G-A | CD33 | c.924+1908G>A | - | IntronicSNV | - | 6/6 |
15-101022231-C-A | CERS3 | c.408-1980G>T | - | IntronicSNV | - | 6/12 |
15-101022231-C-T | CERS3 | c.408-1980G>A | - | IntronicSNV | - | 6/12 |
2-25487658-C-T | DNMT3A | c.639+10152G>A | - | IntronicSNV | - | 6/22 |
17-40957755-A-G | CNTD1 | c.433A>G | p.Thr145Ala | Missense | 4/7 | - |
10-69666598-T-C | SIRT1 | c.994T>C | p.Leu332Leu | Synonymous | 5/9 | - |
3-133494354-C-T | TF | c.1765C>T | p.Pro589Ser | Missense | 15/17 | - |
10-88002865-A-G | GRID1 | c.236-36460T>C | - | IntronicSNV | - | 2/15 |
16-68463621-C-T | SMPD3 | c.-269+18635G>A | - | intron_variant | - | 1/8 |
10-72639800-A-T | SGPL1 | c.*2708A>T | - | 3-UTRSNV | 15/15 | - |
17-42091213-A-G | TMEM101 | c.318+512T>C | - | IntronicSNV | - | 2/3 |
4-164269234-G-A | NPY5R | c.-10+560G>A | - | intron_variant | - | 3/3 |
4-164269234-G-T | NPY5R | c.-10+560G>T | - | intron_variant | - | 3/3 |
4-23806778-C-A | PPARGC1A | c.2020-2810G>T | - | IntronicSNV | - | 10/12 |
3-46032847-C-T | FYCO1 | c.-113+4367G>A | - | intron_variant | - | 1/17 |
1-11857788-G-A | MTHFR | c.587-1332C>T | - | IntronicSNV | - | 4/11 |
19-49122248-T-C | RPL18 | c.3+150A>G | - | IntronicSNV | - | 1/6 |
2-127828941-G-A | BIN1 | c.166-549C>T | - | IntronicSNV | - | 2/18 |
19-10284778-A-G | DNMT1 | c.601-197T>C | - | IntronicSNV | - | 6/39 |
19-10284778-A-T | DNMT1 | c.601-197T>A | - | IntronicSNV | - | 6/39 |
19-45410002-G-A | APOE | c.43+78G>A | - | IntronicSNV | - | 2/3 |
8-143995743-C-T | CYP11B2 | c.891G>A | p.Ala297Ala | Synonymous | 5/9 | - |
9-6257367-T-C | IL33 | c.*1199T>C | - | 3-UTRSNV | 8/8 | - |
16-68428089-T-C | SMPD3 | c.-268-7527A>G | - | intron_variant | - | 1/8 |
15-74637867-A-G | CYP11A1 | c.426-283T>C | - | IntronicSNV | - | 2/8 |
5-6637380-A-G | SRD5A1 | c.293+3398A>G | - | IntronicSNV | - | 1/4 |
17-46988597-C-T | UBE2Z | c.390+355C>T | - | IntronicSNV | - | 2/6 |
4-164267129-C-T | NPY5R | c.-81+224C>T | - | intron_variant | - | 2/3 |
10-73584426-T-C | PSAP | c.777+1168A>G | - | IntronicSNV | - | 7/13 |
3-12392296-A-G | PPARG | c.1-28909A>G | - | IntronicSNV | - | 1/6 |
10-105218359-T-C | CALHM1 | c.150A>G | p.Ala50Ala | Synonymous | 1/2 | - |
6-109762600-A-C | SMPD2 | c.91A>C | p.Arg31Arg | Synonymous | 2/10 | - |
16-46714529-A-G | VPS35 | c.506+54T>C | - | IntronicSNV | - | 5/16 |
17-44105395-A-G | MAPT | c.*3858A>G | - | 3-UTRSNV | 14/14 | - |
1-11862214-T-C | MTHFR | c.236+724A>G | - | IntronicSNV | - | 2/11 |
11-35983221-T-C | LDLRAD3 | c.46+17527T>C | - | IntronicSNV | - | 1/5 |
2-223339154-C-T | SGPP2 | c.220-133C>T | - | IntronicSNV | - | 1/4 |
1-211751060-A-G | SLC30A1 | c.622+273T>C | - | IntronicSNV | - | 1/1 |
19-49129791-A-G | SPHK2 | c.334+172A>G | - | IntronicSNV | - | 3/6 |
8-143993640-C-T | CYP11B2 | c.1399-131G>A | - | IntronicSNV | - | 8/8 |
19-10283932-C-T | DNMT1 | c.636-82G>A | - | IntronicSNV | - | 7/39 |
17-47577348-A-G | NGFR | c.67-2077A>G | - | IntronicSNV | - | 1/5 |
11-61731977-G-T | FTH1 | c.*222C>A | - | 3-UTRSNV | 4/4 | - |
19-10338351-C-T | S1PR2 | c.1-2770G>A | - | IntronicSNV | - | 1/1 |
4-23836400-C-T | PPARGC1A | c.235-3026G>A | - | IntronicSNV | - | 2/12 |
2-203745885-T-C | WDR12 | c.1195-225A>G | - | IntronicSNV | - | 12/12 |
19-288738-T-C | PLPP2 | c.53-567A>G | - | IntronicSNV | - | 1/5 |
19-288738-T-A | PLPP2 | c.53-567A>T | - | IntronicSNV | - | 1/5 |
3-45987980-G-A | CXCR6 | c.7G>A | p.Glu3Lys | Missense | 2/2 | - |
11-36177734-C-T | LDLRAD3 | c.454+57723C>T | - | IntronicSNV | - | 4/5 |
11-73716277-G-C | UCP3 | c.541+498C>G | - | IntronicSNV | - | 4/6 |
15-51613529-G-A | CYP19A1 | c.-39+17163C>T | - | intron_variant | - | 1/9 |
6-52051957-G-T | IL17A | c.28-444G>T | - | IntronicSNV | - | 1/2 |
6-52051957-G-A | IL17A | c.28-444G>A | - | IntronicSNV | - | 1/2 |
9-87340518-T-C | NTRK2 | c.853+1247T>C | - | IntronicSNV | - | 10/14 |
5-179260009-G-T | SQSTM1 | c.503-23G>T | - | IntronicSNV | - | 6/8 |
10-104596396-C-T | CYP17A1 | c.297+426G>A | - | IntronicSNV | - | 1/7 |
12-14055660-A-G | GRIN2B | c.1-36518T>C | - | IntronicSNV | - | 1/12 |
8-17935951-G-A | ASAH1 | c.127-2855C>T | - | IntronicSNV | - | 1/13 |
11-232598-C-T | SIRT3 | c.280+385G>A | - | IntronicSNV | - | 3/6 |
20-31396536-A-G | DNMT3B | c.*827A>G | - | 3-UTRSNV | 23/23 | - |
14-104170465-G-A | XRCC3 | c.407-801C>T | - | IntronicSNV | - | 6/9 |
11-59940599-T-A | MS4A6A | c.637A>T | p.Thr213Ser | Missense | 7/7 | - |
15-78733731-T-C | IREB2 | c.106+1508T>C | - | IntronicSNV | - | 2/21 |
10-52073479-A-G | SGMS1 | c.742-2304T>C | - | IntronicSNV | - | 8/10 |
8-143956247-G-C | CYP11B1 | c.1398+126C>G | - | IntronicSNV | - | 8/8 |
14-104166994-C-T | XRCC3 | c.562-1081G>A | - | IntronicSNV | - | 7/9 |
6-30618906-A-G | C6orf136 | c.161+47A>G | - | IntronicSNV | - | 2/4 |
7-24327920-A-T | NPY | c.189-1198A>T | - | IntronicSNV | - | 2/3 |
7-24327920-A-G | NPY | c.189-1198A>G | - | IntronicSNV | - | 2/3 |
1-156785617-G-A | SH2D2A | c.123+181C>T | - | IntronicSNV | - | 2/8 |
16-68398924-C-T | SMPD3 | c.1395G>A | p.Pro465Pro | Synonymous | 4/9 | - |
11-47461783-A-G | RAPSN | c.966+927T>C | - | IntronicSNV | - | 6/7 |
10-52193333-G-A | SGMS1 | c.-312-17C>T | - | intron_variant | - | 5/10 |
16-68434883-A-G | SMPD3 | c.-268-14321T>C | - | intron_variant | - | 1/8 |
6-109770869-G-A | MICAL1 | c.1425C>T | p.Thr475Thr | Synonymous | 10/25 | - |
22-46620416-G-C | PPARA | c.711+4505G>C | - | IntronicSNV | - | 6/7 |
5-179260213-G-A | SQSTM1 | c.684G>A | p.Arg228Arg | Synonymous | 7/9 | - |
2-127839434-C-T | BIN1 | c.85-5152G>A | - | IntronicSNV | - | 1/18 |
11-60049407-A-G | MS4A4A | c.41+1218A>G | - | IntronicSNV | - | 1/5 |
3-133475722-C-T | TF | c.739C>T | p.Leu247Leu | Synonymous | 7/17 | - |
9-32427406-G-A | ACO1 | c.1456G>A | p.Gly486Arg | Missense | 12/21 | - |
19-1056492-G-T | ABCA7 | c.4580G>T | p.Gly1527Val | Missense | 33/47 | - |
19-1056492-G-C | ABCA7 | c.4580G>C | p.Gly1527Ala | Missense | 33/47 | - |
1-115829313-G-A | NGF | c.104C>T | p.Ala35Val | Missense | 3/3 | - |
11-77976208-C-T | GAB2 | c.377-14762G>A | - | IntronicSNV | - | 2/9 |
3-46007825-T-C | FYCO1 | c.3001A>G | p.Asn1001Asp | Missense | 8/18 | - |
3-12344636-A-G | PPARG | c.-3+15117A>G | - | intron_variant | - | 1/6 |
3-12344636-A-T | PPARG | c.-3+15117A>T | - | intron_variant | - | 1/6 |
18-21114917-A-G | NPC1 | c.3478-394T>C | - | IntronicSNV | - | 22/24 |
18-21114917-A-T | NPC1 | c.3478-394T>A | - | IntronicSNV | - | 22/24 |
11-235619-A-C | SIRT3 | c.-146+575T>G | - | intron_variant | - | 1/6 |
10-108758726-C-T | SORCS1 | c.559-42388G>A | - | IntronicSNV | - | 1/25 |
4-164268914-C-A | NPY5R | c.-10+240C>A | - | intron_variant | - | 3/3 |
8-143953937-A-G | CYP11B1 | c.*1852T>C | - | 3-UTRSNV | 9/9 | - |
8-143953937-A-C | CYP11B1 | c.*1852T>G | - | 3-UTRSNV | 9/9 | - |
3-46007488-G-A | FYCO1 | c.3057+281C>T | - | IntronicSNV | - | 8/17 |
15-101022884-G-C | CERS3 | c.407+1871C>G | - | IntronicSNV | - | 6/12 |
15-101022884-G-A | CERS3 | c.407+1871C>T | - | IntronicSNV | - | 6/12 |
18-21114917-A-C | NPC1 | c.3478-394T>G | - | IntronicSNV | - | 22/24 |
18-21118528-G-C | NPC1 | c.3019C>G | p.Pro1007Ala | Missense | 20/25 | - |
20-44539492-G-C | PLTP | c.200+299C>G | - | IntronicSNV | - | 3/15 |
2-223339582-C-A | SGPP2 | c.378+137C>A | - | IntronicSNV | - | 2/4 |
2-223339582-C-T | SGPP2 | c.378+137C>T | - | IntronicSNV | - | 2/4 |
7-24324670-A-G | NPY | c.1-190A>G | - | IntronicSNV | - | 1/3 |
2-25466888-G-C | DNMT3A | c.1852-37C>G | - | IntronicSNV | - | 15/22 |
2-25466888-G-T | DNMT3A | c.1852-37C>A | - | IntronicSNV | - | 15/22 |
16-46699553-G-A | VPS35 | c.1648-2479C>T | - | IntronicSNV | - | 13/16 |
3-46003735-C-T | FYCO1 | c.3419G>A | p.Arg1140Gln | Missense | 11/18 | - |
6-47494718-A-C | CD2AP | c.166-6620A>C | - | IntronicSNV | - | 2/17 |
3-12475557-C-T | PPARG | c.1347C>T | p.His449His | Synonymous | 7/7 | - |