PMID: 31745181

Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.

Scientific reports
M Vacher, T Porter, VL Villemagne, L Milicic, M Peretti, C Fowler, R Martins, S Rainey-Smith, D Ames, CL Masters, CC Rowe, JD Doecke, SM Laws
2019-11-19

1915 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-5137047-G-A SCIMP c.21+983C>T - IntronicSNV - 1/4
7-22767433-A-G IL6 c.210+180A>G - IntronicSNV - 2/4
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
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
15-51502986-G-A CYP19A1 c.*19C>T - 3-UTRSNV 10/10 -
19-8316310-T-C CERS4 c.173+177T>C - IntronicSNV - 3/11
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
19-9952743-G-A PIN1 c.271+3419G>A - IntronicSNV - 2/3
10-60145342-G-C TFAM c.35G>C p.Ser12Thr Missense 1/7 -
15-51558731-G-A CYP19A1 c.1-23622C>T - IntronicSNV - 1/9
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 -
11-77992967-A-G GAB2 c.76-1020T>C - IntronicSNV - 1/9
3-148916235-T-A CP c.1632A>T p.Glu544Asp Missense 9/19 -
8-27456253-T-C CLU c.1165-101A>G - IntronicSNV - 7/8
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 -
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 -
11-36111616-A-G LDLRAD3 c.320-8261A>G - IntronicSNV - 3/5
11-78100244-C-A GAB2 c.75+28448G>T - IntronicSNV - 1/9
17-47592134-G-A NGFR c.*1763G>A - 3-UTRSNV 6/6 -
11-78100244-C-T GAB2 c.75+28448G>A - IntronicSNV - 1/9
6-151206166-C-T MTHFD1L c.543-604C>T - IntronicSNV - 5/27
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
8-27455442-T-C CLU c.*316A>G - 3-UTRSNV 9/9 -
6-30596135-A-G ATAT1 c.465A>G p.Ala155Ala Synonymous 6/11 -
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
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
10-94374377-C-G KIF11 c.1032+1001C>G - IntronicSNV - 8/21
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 -
12-7169661-C-T C1S c.6-118C>T - IntronicSNV - 2/11
11-121380965-G-A SORL1 c.940-2747G>A - IntronicSNV - 6/47
14-64185532-T-C SGPP1 c.684+8447A>G - IntronicSNV - 1/2
2-25493187-G-C DNMT3A c.639+4623C>G - IntronicSNV - 6/22
2-25493187-G-A DNMT3A c.639+4623C>T - IntronicSNV - 6/22
6-109771955-A-G MICAL1 c.934-195T>C - IntronicSNV - 7/24
14-64871210-C-T MTHFD1 c.126+3615C>T - IntronicSNV - 2/27
14-64185532-T-A SGPP1 c.684+8447A>T - IntronicSNV - 1/2
2-169498189-A-G CERS6 c.465+10637A>G - IntronicSNV - 4/9
6-47504513-A-G CD2AP c.319+3022A>G - IntronicSNV - 3/17
1-101198708-C-T VCAM1 c.1792+468C>T - IntronicSNV - 7/8
6-47453378-G-C CD2AP c.4+7394G>C - IntronicSNV - 1/17
2-169323540-C-T CERS6 c.170+10412C>T - IntronicSNV - 1/9
9-99056209-A-C HSD17B3 c.201+4489T>G - IntronicSNV - 2/10
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
10-104596396-C-T CYP17A1 c.297+426G>A - IntronicSNV - 1/7
9-6242950-C-T IL33 c.91+1165C>T - IntronicSNV - 2/7
4-158277682-A-C GRIA2 c.2044-3366A>C - IntronicSNV - 12/15
12-14055660-A-C GRIN2B c.1-36518T>G - IntronicSNV - 1/12
20-31352927-T-C DNMT3B c.-7+2422T>C - intron_variant - 1/22
11-217140-T-C SIRT3 c.754-422A>G - IntronicSNV - 6/6
7-107334513-T-A SLC26A4 c.1264-335T>A - IntronicSNV - 10/20
4-164270253-C-A NPY5R c.1-1173C>A - IntronicSNV - 3/3
22-46594271-T-C PPARA c.1-10T>C - 5-UTRSNV 3/8 -
17-47591035-C-G NGFR c.*664C>G - 3-UTRSNV 6/6 -
17-47591035-C-A NGFR c.*664C>A - 3-UTRSNV 6/6 -
5-6643886-C-T SRD5A1 c.294-8069C>T - IntronicSNV - 1/4
7-22768479-C-T IL6 c.324+54C>T - IntronicSNV - 3/4
5-6643886-C-A SRD5A1 c.294-8069C>A - IntronicSNV - 1/4
10-52348894-G-T SGMS1 c.-589+1019C>A - intron_variant - 2/10
22-42218856-A-G CCDC134 c.565-2846A>G - IntronicSNV - 6/6
17-40958821-C-A CNTD1 c.710C>A p.Pro237His Missense 5/7 -
13-33592193-C-A KL c.819+796C>A - IntronicSNV - 1/4
22-42218856-A-C CCDC134 c.565-2846A>C - IntronicSNV - 6/6
11-232598-C-T SIRT3 c.280+385G>A - IntronicSNV - 3/6
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
11-85690012-C-G PICALM c.1779+2160G>C - IntronicSNV - 17/19
16-68421944-C-T SMPD3 c.1-15860G>A - IntronicSNV - 1/8
16-10033918-A-T GRIN2A c.415-1510T>A - IntronicSNV - 3/13
12-14019157-C-T GRIN2B c.1-15G>A - 5-UTRSNV 2/13 -
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-A KL c.1767C>A p.His589Gln Missense 4/5 -
13-33634983-C-T KL c.1767C>T p.His589His Synonymous 4/5 -
9-87340518-T-A NTRK2 c.853+1247T>A - IntronicSNV - 10/14
9-87340518-T-C NTRK2 c.853+1247T>C - 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
X-38256679-G-A OTC c.387-3849G>A - IntronicSNV - 4/9
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
1-154544651-G-A CHRNB2 c.1338+14G>A - IntronicSNV - 5/5
13-33628193-G-T KL c.1109G>T p.Cys370Phe Missense 2/5 -
19-45402477-C-A TOMM40 c.644-1510C>A - IntronicSNV - 6/9
10-94298331-G-A IDE c.99-1024C>T - IntronicSNV - 1/24
19-45402477-C-T TOMM40 c.644-1510C>T - IntronicSNV - 6/9
2-217506265-A-G IGFBP2 c.442+7577A>G - IntronicSNV - 1/3
11-121414476-G-T SORL1 c.1864+41G>T - IntronicSNV - 13/47
11-121414476-G-A SORL1 c.1864+41G>A - IntronicSNV - 13/47
18-21124945-C-T NPC1 c.1926G>A p.Met642Ile Missense 12/25 -
X-91523596-A-T PCDH11X c.3114+67142A>T - IntronicSNV - 3/5
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
X-91523596-A-G PCDH11X c.3114+67142A>G - IntronicSNV - 3/5
5-6667084-T-A SRD5A1 c.714-1231T>A - IntronicSNV - 4/4
5-6667084-T-C SRD5A1 c.714-1231T>C - IntronicSNV - 4/4
7-22769773-G-C IL6 c.471+494G>C - IntronicSNV - 4/4
1-53732138-C-A LRP8 c.1427+7G>T - IntronicSNV - 9/18
6-32007459-A-C CYP21A2 c.651+35A>C - IntronicSNV - 5/9
10-20390641-G-T PLXDC2 c.541+33473G>T - IntronicSNV - 4/13
6-151252985-G-A MTHFD1L c.1257-4955G>A - IntronicSNV - 11/27
10-20390641-G-A PLXDC2 c.541+33473G>A - IntronicSNV - 4/13
19-11238548-A-T LDLR c.2312-136A>T - IntronicSNV - 15/17
10-52341930-G-A SGMS1 c.-589+7983C>T - intron_variant - 2/10
17-61562373-A-G ACE c.1922-224A>G - IntronicSNV - 12/24
19-11238548-A-G LDLR c.2312-136A>G - IntronicSNV - 15/17
8-143954290-G-A CYP11B1 c.*1499C>T - 3-UTRSNV 9/9 -
11-73718063-C-T UCP3 c.25G>A p.Val9Met Missense 2/7 -
11-73718063-C-G UCP3 c.25G>C p.Val9Leu Missense 2/7 -
14-88415750-A-G GALC c.1338+439T>C - IntronicSNV - 12/16
2-217527963-A-G IGFBP2 c.814-700A>G - IntronicSNV - 3/3
1-115829943-C-G NGF c.1-527G>C - IntronicSNV - 2/2
22-46627780-C-T PPARA c.803C>T p.Ala268Val Missense 7/8 -
10-88029586-C-A GRID1 c.236-63181G>T - IntronicSNV - 2/15
15-74635248-G-A CYP11A1 c.990+70C>T - IntronicSNV - 5/8
1-115829943-C-A NGF c.1-527G>T - IntronicSNV - 2/2
10-104595248-G-A CYP17A1 c.298-99C>T - IntronicSNV - 1/7
19-1064485-C-T ABCA7 c.6044+233C>T - IntronicSNV - 45/46
9-114660452-T-G UGCG c.98+859T>G - IntronicSNV - 1/8
1-53712727-C-T LRP8 c.2855G>A p.Arg952Gln Missense 19/19 -
13-33624889-A-C KL c.820-3015A>C - IntronicSNV - 1/4
1-209881373-G-T HSD11B1 c.517+900G>T - IntronicSNV - 4/5
14-74948924-T-C NPC2 c.364-1442A>G - IntronicSNV - 3/4
1-57036357-C-A PLPP3 c.139+8194G>T - IntronicSNV - 1/5
3-133467377-T-A TF c.165T>A p.Ser55Arg Missense 2/17 -
17-40962240-C-T BECN1 c.*538G>A - 3-UTRSNV 12/12 -
10-5139685-G-A AKR1C3 c.312G>A p.Lys104Lys Synonymous 3/9 -
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 -
9-87334068-C-T NTRK2 c.584-4420C>T - IntronicSNV - 8/14
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
13-33615948-T-G KL c.820-11956T>G - IntronicSNV - 1/4
14-88450770-G-A GALC c.550C>T p.Arg184Cys Missense 5/17 -
8-27462481-A-C CLU c.789T>G p.His263Gln Missense 5/9 -
8-27462481-A-G CLU c.789T>C p.His263His Synonymous 5/9 -
1-206949365-A-T IL19 c.-35+4942A>T - intron_variant - 1/6
19-40877595-G-A PLD3 c.694G>A p.Val232Met Missense 9/13 -
6-47556033-G-A CD2AP c.1108+6232G>A - IntronicSNV - 11/17
2-170010985-T-C LRP2 c.12280A>G p.Lys4094Glu Missense 66/79 -
14-74961352-C-T ISCA2 c.291-177C>T - IntronicSNV - 3/3
11-77996403-C-G GAB2 c.76-4456G>C - IntronicSNV - 1/9
9-6256292-G-A IL33 c.*124G>A - 3-UTRSNV 8/8 -
16-68398924-C-T SMPD3 c.1395G>A p.Pro465Pro Synonymous 4/9 -
17-42426940-G-A GRN c.264+21G>A - IntronicSNV - 3/12
22-46591752-A-G PPARA c.1-2529A>G - IntronicSNV - 2/7
11-36077902-T-G LDLRAD3 c.193+20103T>G - IntronicSNV - 2/5
1-150941381-C-T CERS2 c.173+13G>A - IntronicSNV - 2/10
10-94232247-T-C IDE c.2117-2145A>G - IntronicSNV - 17/24
10-108407898-G-A SORCS1 c.2475+4242C>T - IntronicSNV - 18/25
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 -
9-32425898-T-C ACO1 c.1251T>C p.Tyr417Tyr Synonymous 11/21 -
22-46626506-G-A PPARA c.712-1183G>A - IntronicSNV - 6/7
8-143996539-T-C CYP11B2 c.518A>G p.Lys173Arg Missense 3/9 -
19-9949402-C-T PIN1 c.271+78C>T - IntronicSNV - 2/3
20-33139691-C-A MAP1LC3A c.52+1858C>A - IntronicSNV - 2/4
6-32006337-C-A CYP21A2 c.138C>A p.Pro46Pro Synonymous 1/10 -
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
19-45409167-C-G APOE c.-24+69C>G - intron_variant - 1/3
13-33623164-G-A KL c.820-4740G>A - IntronicSNV - 1/4
11-73713442-T-C UCP3 c.825-871A>G - IntronicSNV - 6/6
10-73605926-G-T PSAP c.40+5013C>A - IntronicSNV - 1/13
6-134213181-C-G TCF21 c.*241C>G - IntronicSNV 3/3 -
19-51729594-T-C CD33 c.727T>C p.Phe243Leu Missense 4/7 -
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
1-237048500-A-G MTR c.2756A>G p.Asp919Gly Missense 26/33 -
9-114672325-A-G UGCG c.99-4560A>G - IntronicSNV - 1/8
19-10268974-G-A DNMT1 c.1232+1360C>T - IntronicSNV - 16/39
10-69666598-T-C SIRT1 c.994T>C p.Leu332Leu Synonymous 5/9 -
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 -
3-133494354-C-T TF c.1765C>T p.Pro589Ser Missense 15/17 -
4-164269234-G-A NPY5R c.-10+560G>A - intron_variant - 3/3
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
17-42091213-A-G TMEM101 c.318+512T>C - IntronicSNV - 2/3
4-164269234-G-T NPY5R c.-10+560G>T - intron_variant - 3/3
9-140034431-C-T GRIN1 c.258+235C>T - IntronicSNV - 1/19
4-23806778-C-A PPARGC1A c.2020-2810G>T - IntronicSNV - 10/12
19-49122248-T-C RPL18 c.3+150A>G - IntronicSNV - 1/6
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
1-11255238-A-G MTOR c.4253+4077T>C - IntronicSNV - 28/57
19-10284778-A-G DNMT1 c.601-197T>C - IntronicSNV - 6/39
2-127828941-G-A BIN1 c.166-549C>T - IntronicSNV - 2/18
19-10284778-A-T DNMT1 c.601-197T>A - IntronicSNV - 6/39
19-45410002-G-A APOE c.43+78G>A - IntronicSNV - 2/3
10-72639800-A-G SGPL1 c.*2708A>G - 3-UTRSNV 15/15 -
10-72639800-A-T SGPL1 c.*2708A>T - 3-UTRSNV 15/15 -
8-143995743-C-T CYP11B2 c.891G>A p.Ala297Ala Synonymous 5/9 -
15-74637867-A-G CYP11A1 c.426-283T>C - IntronicSNV - 2/8
5-6637380-A-G SRD5A1 c.293+3398A>G - IntronicSNV - 1/4
14-104143385-C-T KLC1 c.1380-367C>T - IntronicSNV - 11/14
9-6257367-T-C IL33 c.*1199T>C - 3-UTRSNV 8/8 -
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
17-44105395-A-G MAPT c.*3858A>G - 3-UTRSNV 14/14 -
2-223339154-C-T SGPP2 c.220-133C>T - IntronicSNV - 1/4
8-143993640-C-T CYP11B2 c.1399-131G>A - IntronicSNV - 8/8
1-211751060-A-G SLC30A1 c.622+273T>C - IntronicSNV - 1/1
19-49129791-A-G SPHK2 c.334+172A>G - IntronicSNV - 3/6
2-113590390-G-A IL1B c.315C>T p.Phe105Phe Synonymous 5/7 -
19-10283932-C-T DNMT1 c.636-82G>A - IntronicSNV - 7/39
3-12392296-A-G PPARG c.1-28909A>G - IntronicSNV - 1/6
6-28263721-T-A PGBD1 c.643-872T>A - IntronicSNV - 4/6
10-105218359-T-C CALHM1 c.150A>G p.Ala50Ala Synonymous 1/2 -
16-46714529-A-G VPS35 c.506+54T>C - IntronicSNV - 5/16
10-114758349-C-T TCF7L2 c.382-41435C>T - IntronicSNV - 3/13
10-114758349-C-G TCF7L2 c.382-41435C>G - IntronicSNV - 3/13
14-64894362-C-T MTHFD1 c.1264+171C>T - IntronicSNV - 12/27
17-47577348-A-G NGFR c.67-2077A>G - IntronicSNV - 1/5
15-51613529-G-A CYP19A1 c.-39+17163C>T - intron_variant - 1/9
19-288738-T-C PLPP2 c.53-567A>G - IntronicSNV - 1/5
2-203745885-T-C WDR12 c.1195-225A>G - IntronicSNV - 12/12
15-51040798-T-C SPPL2A c.360+87A>G - IntronicSNV - 3/14
19-10338351-C-T S1PR2 c.1-2770G>A - IntronicSNV - 1/1
17-44076063-C-T MAPT c.1773+2033C>T - IntronicSNV - 10/13
4-23836400-C-T PPARGC1A c.235-3026G>A - IntronicSNV - 2/12
17-7293715-C-T PLSCR3 c.877G>A p.Val293Ile Missense 8/8 -
3-45987980-G-A CXCR6 c.7G>A p.Glu3Lys Missense 2/2 -
19-288738-T-A PLPP2 c.53-567A>T - IntronicSNV - 1/5
6-52051957-G-T IL17A c.28-444G>T - IntronicSNV - 1/2
11-61731977-G-T FTH1 c.*222C>A - 3-UTRSNV 4/4 -
6-52051957-G-A IL17A c.28-444G>A - IntronicSNV - 1/2
5-179260009-G-T SQSTM1 c.503-23G>T - IntronicSNV - 6/8
11-27679738-C-A BDNF c.374G>T p.Arg125Met Missense 1/1 -
12-14055660-A-G GRIN2B c.1-36518T>C - IntronicSNV - 1/12
20-31396536-A-T DNMT3B c.*827A>T - 3-UTRSNV 23/23 -
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 -
10-52073479-A-G SGMS1 c.742-2304T>C - IntronicSNV - 8/10
15-78733731-T-C IREB2 c.106+1508T>C - IntronicSNV - 2/21
7-24327920-A-T NPY c.189-1198A>T - IntronicSNV - 2/3
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-G NPY c.189-1198A>G - IntronicSNV - 2/3
1-156785617-G-A SH2D2A c.123+181C>T - IntronicSNV - 2/8
10-94333827-G-A IDE c.1-51C>T - 5-UTRSNV 1/25 -
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
6-109770869-G-A MICAL1 c.1425C>T p.Thr475Thr Synonymous 10/25 -
16-68434883-A-G SMPD3 c.-268-14321T>C - intron_variant - 1/8
8-17935951-G-A ASAH1 c.127-2855C>T - IntronicSNV - 1/13
22-46620416-G-C PPARA c.711+4505G>C - IntronicSNV - 6/7
17-40970817-G-T BECN1 c.339C>A p.Ser113Arg Missense 5/12 -
19-51740839-G-A CD33 c.924+1908G>A - IntronicSNV - 6/6
5-179260213-G-A SQSTM1 c.684G>A p.Arg228Arg Synonymous 7/9 -
3-133475722-C-T TF c.739C>T p.Leu247Leu Synonymous 7/17 -
2-127839434-C-T BIN1 c.85-5152G>A - IntronicSNV - 1/18
11-60049407-A-G MS4A4A c.41+1218A>G - IntronicSNV - 1/5
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
10-108758726-C-T SORCS1 c.559-42388G>A - IntronicSNV - 1/25
3-46007825-T-C FYCO1 c.3001A>G p.Asn1001Asp Missense 8/18 -
18-21114917-A-T NPC1 c.3478-394T>A - IntronicSNV - 22/24
18-21114917-A-C NPC1 c.3478-394T>G - IntronicSNV - 22/24
18-21114917-A-G NPC1 c.3478-394T>C - IntronicSNV - 22/24
11-235619-A-C SIRT3 c.-146+575T>G - intron_variant - 1/6
4-164268914-C-T NPY5R c.-10+240C>T - intron_variant - 3/3
8-143953937-A-C CYP11B1 c.*1852T>G - 3-UTRSNV 9/9 -
4-164268914-C-A NPY5R c.-10+240C>A - intron_variant - 3/3
20-44539492-G-C PLTP c.200+299C>G - IntronicSNV - 3/15
8-143953937-A-G CYP11B1 c.*1852T>C - 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
3-12344636-A-T PPARG c.-3+15117A>T - intron_variant - 1/6
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
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 -
11-85698207-A-T PICALM c.1408+3086T>A - IntronicSNV - 13/19
6-47494718-A-C CD2AP c.166-6620A>C - IntronicSNV - 2/17
13-33635463-T-C KL c.2247T>C p.Ala749Ala Synonymous 4/5 -
11-85698207-A-C PICALM c.1408+3086T>G - IntronicSNV - 13/19
19-45398716-A-C TOMM40 c.643+1393A>C - IntronicSNV - 6/9
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
9-32401610-A-G ACO1 c.1-3895A>G - IntronicSNV - 1/20
19-45405062-A-T TOMM40 c.946+495A>T - IntronicSNV - 9/9
10-75237966-C-T PPP3CB c.411+291G>A - IntronicSNV - 3/13
1-207782931-A-G CR1 c.4843A>G p.Ile1615Val Missense 29/39 -
9-99056209-A-G HSD17B3 c.201+4489T>C - IntronicSNV - 2/10
2-169580370-C-T CERS6 c.845+5882C>T - IntronicSNV - 8/9
17-74380786-C-T SPHK1 c.-296C>T - 5_prime_UTR_variant 1/6 -
10-5149144-A-T AKR1C3 c.930-509A>T - IntronicSNV - 8/8
22-42210985-T-C CCDC134 c.564+1159T>C - IntronicSNV - 6/6
19-45395266-G-A TOMM40 c.274+320G>A - IntronicSNV - 2/9
16-72088461-A-G HP c.1-91A>G - IntergenicSNV 1/7 -
1-156813650-T-C INSRR c.2843+317A>G - IntronicSNV - 15/21
3-46003736-G-T FYCO1 c.3418C>A p.Arg1140Arg Synonymous 11/18 -
10-52088004-C-T SGMS1 c.624-922G>A - IntronicSNV - 7/10
3-133492471-G-A TF c.1688-1806G>A - IntronicSNV - 14/16
9-32409442-G-A ACO1 c.404+793G>A - IntronicSNV - 4/20
7-143101984-C-T EPHA1 c.150+2720G>A - IntronicSNV - 2/17
4-23798818-G-A PPARGC1A c.2294-1270C>T - IntronicSNV - 12/12
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 -
19-45373565-G-A NECTIN2 c.479-1545G>A - IntronicSNV - 2/5
10-104596924-C-A CYP17A1 c.195G>T p.Ser65Ser Synonymous 1/8 -
10-52198016-A-G SGMS1 c.-312-4700T>C - intron_variant - 5/10
9-6247430-C-T IL33 c.92-3044C>T - IntronicSNV - 2/7
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
8-27458294-T-G CLU c.935-768A>C - IntronicSNV - 6/8
8-27458294-T-A CLU c.935-768A>T - IntronicSNV - 6/8
15-51534547-C-T CYP19A1 c.145+418G>A - IntronicSNV - 2/9
15-51534547-C-A CYP19A1 c.145+418G>T - IntronicSNV - 2/9
6-47469136-G-A CD2AP c.5-1880G>A - IntronicSNV - 1/17
3-46025941-T-C FYCO1 c.55+407A>G - IntronicSNV - 2/17
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
10-52070824-C-G SGMS1 c.895+198G>C - IntronicSNV - 9/10
10-52135215-G-A SGMS1 c.1-31341C>T - IntronicSNV - 6/10
9-87425973-G-A NTRK2 c.*479G>A - 3-UTRSNV 15/15 -
8-143954223-C-A CYP11B1 c.*1566G>T - 3-UTRSNV 9/9 -
19-49943948-G-C SLC17A7 c.62+627C>G - IntronicSNV - 1/11
9-6247430-C-G IL33 c.92-3044C>G - IntronicSNV - 2/7
20-55018260-T-C CASS4 c.460-2696T>C - IntronicSNV - 2/5
1-120051446-G-A HSD3B1 c.145+1202G>A - IntronicSNV - 2/3
1-120051446-G-C HSD3B1 c.145+1202G>C - IntronicSNV - 2/3
2-25466888-G-T DNMT3A c.1852-37C>A - IntronicSNV - 15/22
1-154551032-C-G CHRNB2 c.*2624C>G - 3-UTRSNV 6/6 -
1-154551032-C-T CHRNB2 c.*2624C>T - 3-UTRSNV 6/6 -
17-47578735-C-T NGFR c.67-690C>T - IntronicSNV - 1/5
1-206946407-T-G IL19 c.-35+1984T>G - intron_variant - 1/6
10-75204737-T-G PPP3CB c.1269-157A>C - IntronicSNV - 11/13
7-100219929-G-A TFR2 c.2137-1180C>T - IntronicSNV - 17/17
19-51741599-C-A CD33 c.925-1174C>A - IntronicSNV - 6/6
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 -
3-12434608-G-A PPARG c.535+357G>A - IntronicSNV - 4/6
3-12421089-C-T PPARG c.1-116C>T - IntronicSNV - 1/6
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 -
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
11-224088-G-T SIRT3 c.533C>A p.Thr178Asn Missense 5/7 -
1-115837709-A-G NGF c.-136-1338T>C - intron_variant - 1/2
11-36510547-G-A TRAF6 c.*841C>T - 3-UTRSNV 8/8 -
10-104595420-T-G CYP17A1 c.298-271A>C - IntronicSNV - 1/7
11-121448254-G-A SORL1 c.3580+145G>A - IntronicSNV - 25/47
10-104597152-A-G CYP17A1 c.1-34T>C - 5-UTRSNV 1/8 -
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 -
12-57594955-G-C LRP1 c.10345+19G>C - IntronicSNV - 65/88
3-133468139-G-A TF c.216+711G>A - IntronicSNV - 2/16
12-57594955-G-A LRP1 c.10345+19G>A - IntronicSNV - 65/88
8-143957979-A-T CYP11B1 c.799+119T>A - IntronicSNV - 4/8
17-42427732-G-T GRN c.462+24G>T - IntronicSNV - 5/12
8-143957979-A-C CYP11B1 c.799+119T>G - IntronicSNV - 4/8
11-36251046-G-A LDLRAD3 c.*99G>A - 3-UTRSNV 6/6 -
10-5149144-A-G AKR1C3 c.930-509A>G - IntronicSNV - 8/8
11-36251046-G-C LDLRAD3 c.*99G>C - 3-UTRSNV 6/6 -
9-114680171-T-G UGCG c.240+3145T>G - IntronicSNV - 2/8
14-88414211-G-A GALC c.1350C>T p.Ser450Ser Synonymous 13/17 -
8-143954769-G-A CYP11B1 c.*1020C>T - 3-UTRSNV 9/9 -
16-72088776-C-T HP c.5+220C>T - IntronicSNV - 1/6
10-94222624-C-G IDE c.2761+864G>C - IntronicSNV - 21/24
10-104592249-A-C CYP17A1 c.1139+19T>G - IntronicSNV - 6/7
8-27468862-C-G CLU c.1-774G>C - IntronicSNV - 1/8
11-61731727-T-C BEST1 c.*133T>C - 3-UTRSNV 11/11 -
10-104719096-G-A CNNM2 c.1621+39238G>A - IntronicSNV - 1/7
10-5139685-G-C AKR1C3 c.312G>C p.Lys104Asn Missense 3/9 -
10-5139685-G-T AKR1C3 c.312G>T p.Lys104Asn Missense 3/9 -
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 -
22-46638540-A-G PPARA c.*7263A>G - 3-UTRSNV 8/8 -
22-46638540-A-C PPARA c.*7263A>C - 3-UTRSNV 8/8 -
10-52133594-A-G SGMS1 c.1-29720T>C - IntronicSNV - 6/10
19-45405062-A-G TOMM40 c.946+495A>G - IntronicSNV - 9/9
10-94222624-C-T IDE c.2761+864G>A - IntronicSNV - 21/24
1-11857951-T-A MTHFR c.587-1495A>T - IntronicSNV - 4/11
1-11857951-T-C MTHFR c.587-1495A>G - IntronicSNV - 4/11
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
9-99061972-A-G HSD17B3 c.155-1228T>C - IntronicSNV - 1/10
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-A SMPD3 c.-268-14463G>T - intron_variant - 1/8
16-68435025-C-T SMPD3 c.-268-14463G>A - intron_variant - 1/8
6-151198895-T-C MTHFD1L c.364-14T>C - IntronicSNV - 3/27
6-151198895-T-G MTHFD1L c.364-14T>G - IntronicSNV - 3/27
1-156846233-G-A NTRK1 c.1674G>A p.Gln558Gln Synonymous 14/17 -
2-217511100-C-T IGFBP2 c.442+12412C>T - IntronicSNV - 1/3
12-12301898-C-T LRP6 c.3184G>A p.Val1062Ile Missense 14/23 -
16-46705576-C-G VPS35 c.1524+41G>C - IntronicSNV - 12/16
11-36130797-G-A LDLRAD3 c.454+10786G>A - IntronicSNV - 4/5
10-52070824-C-T SGMS1 c.895+198G>A - IntronicSNV - 9/10
9-90155692-G-A DAPK1 c.62+41638G>A - IntronicSNV - 2/25
6-30611350-C-A ATAT1 c.*11C>A - 3-UTRSNV 11/11 -
7-24324879-T-C NPY c.20T>C p.Leu7Pro Missense 2/4 -
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
11-59951433-A-C MS4A6A c.-127+360T>G - intron_variant - 1/6
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
10-52008140-C-T ASAH2 c.127+104G>A - IntronicSNV - 1/19
1-101199886-A-G VCAM1 c.1793-172A>G - IntronicSNV - 7/8
6-109769216-A-G MICAL1 c.1856-50T>C - IntronicSNV - 13/24
6-109769216-A-C MICAL1 c.1856-50T>G - IntronicSNV - 13/24
6-26091179-C-T HFE c.187C>T p.His63Tyr Missense 2/6 -
22-46553308-C-T PPARA c.-43+5435C>T - intron_variant - 2/7
19-10395208-C-T ICAM1 c.1055C>T p.Pro352Leu Missense 5/7 -
1-206946897-T-C IL19 c.-35+2474T>C - intron_variant - 1/6
1-56963026-C-T PLPP3 c.811-678G>A - IntronicSNV - 5/5
16-68460215-T-C SMPD3 c.-269+22041A>G - 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 -
16-68412028-A-G SMPD3 c.1-5944T>C - IntronicSNV - 2/8
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 -
20-44530838-G-C PLTP c.1175+68C>G - IntronicSNV - 12/15
20-44530838-G-T PLTP c.1175+68C>A - IntronicSNV - 12/15
6-109769216-A-T MICAL1 c.1856-50T>A - IntronicSNV - 13/24
11-121327859-G-A SORL1 c.285+4534G>A - IntronicSNV - 1/47
18-21140432-T-C NPC1 c.644A>G p.His215Arg Missense 6/25 -
11-77930499-G-A GAB2 c.1888-38C>T - IntronicSNV - 9/9
10-52130834-G-A SGMS1 c.1-26960C>T - IntronicSNV - 2/10
2-113537223-C-A IL1A c.340G>T p.Ala114Ser Missense 5/7 -
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
20-23616305-T-C CST3 c.244-301A>G - IntronicSNV - 1/2
10-72616064-C-T SGPL1 c.410-1307C>T - IntronicSNV - 5/14
20-31383353-T-G DNMT3B c.1252+13T>G - IntronicSNV - 11/22
12-12350113-G-C LRP6 c.647+6024C>G - IntronicSNV - 3/22
12-12350113-G-A LRP6 c.647+6024C>T - IntronicSNV - 3/22
20-31383353-T-A DNMT3B c.1252+13T>A - IntronicSNV - 11/22
11-36525503-T-G TRAF6 c.-115-2142A>C - intron_variant - 1/7
15-101066561-C-T CERS3 c.-92+2457G>A - intron_variant - 2/12
22-42193913-T-C MEI1 c.3780-1345T>C - IntronicSNV - 30/30
16-68387496-A-T PRMT7 c.1650+27A>T - IntronicSNV - 16/18
19-45404691-A-T TOMM40 c.946+124A>T - IntronicSNV - 9/9
2-25535543-T-C DNMT3A c.72+1239A>G - IntronicSNV - 2/22
1-57044331-C-T PLPP3 c.139+220G>A - IntronicSNV - 1/5
7-143101736-G-A EPHA1 c.150+2968C>T - IntronicSNV - 2/17
3-46005882-G-A FYCO1 c.3215C>T p.Ala1072Val Missense 10/18 -
10-72629567-C-T SGPL1 c.723C>T p.Ala241Ala Synonymous 9/15 -
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
7-129663496-C-T ZC3HC1 c.1088G>A p.Arg363His Missense 8/10 -
12-57559809-G-A LRP1 c.2672-58G>A - IntronicSNV - 16/88
6-32007865-T-C CYP21A2 c.822T>C p.Ser274Ser Synonymous 7/10 -
12-51381750-T-C SLC11A2 c.*358A>G - 3-UTRSNV 16/16 -
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
8-143955657-A-G CYP11B1 c.*132T>C - 3-UTRSNV 9/9 -
11-218613-G-A SIRT3 c.753+219C>T - IntronicSNV - 6/6
20-31395477-G-A DNMT3B c.2421-91G>A - IntronicSNV - 22/22
15-51540387-G-A CYP19A1 c.1-5278C>T - IntronicSNV - 1/9
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
3-148896430-A-G CP c.2662-12T>C - IntronicSNV - 15/18
15-100988564-G-A CERS3 c.999+7534C>T - IntronicSNV - 12/12
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
1-207784968-A-G CR1 c.4946-54A>G - IntronicSNV - 29/38
2-223293168-G-T SGPP2 c.219+3628G>T - IntronicSNV - 1/4
1-53716416-G-A LRP8 c.2622C>T p.Asp874Asp Synonymous 17/19 -
2-217504112-A-G IGFBP2 c.442+5424A>G - IntronicSNV - 1/3
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 -
2-31805706-G-C SRD5A2 c.262C>G - missense_variant 2/6 -
1-156838141-T-C NTRK1 c.574+100T>C - IntronicSNV - 5/16
2-68470425-T-A PPP3R1 c.3+8832A>T - IntronicSNV - 1/5
2-68470425-T-G PPP3R1 c.3+8832A>C - IntronicSNV - 1/5
19-10334443-A-C S1PR2 c.*77T>G - 3-UTRSNV 2/2 -
19-1058176-A-G ABCA7 c.5057A>G p.Gln1686Arg Missense 37/47 -
5-6666922-G-A SRD5A1 c.714-1393G>A - IntronicSNV - 4/4
11-230368-C-T SIRT3 c.381+84G>A - IntronicSNV - 4/6
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 -
3-154858685-G-A MME c.957+604G>A - IntronicSNV - 10/22
2-217500819-A-G IGFBP2 c.442+2131A>G - IntronicSNV - 1/3
1-150945607-T-A CERS2 c.-2+1488A>T - intron_variant - 1/10
18-21114700-T-C NPC1 c.3478-177A>G - IntronicSNV - 22/24
11-233067-C-A SIRT3 c.196G>T p.Val66Phe Missense 3/7 -
10-108659754-A-C SORCS1 c.626+56517T>G - IntronicSNV - 2/25
10-108659754-A-T SORCS1 c.626+56517T>A - IntronicSNV - 2/25
8-143956247-G-C CYP11B1 c.1398+126C>G - IntronicSNV - 8/8
10-60148692-A-G TFAM c.441+113A>G - IntronicSNV - 4/6
10-72639621-C-A SGPL1 c.*2529C>A - 3-UTRSNV 15/15 -
19-10395683-A-G ICAM1 c.1405A>G p.Lys469Glu Missense 6/7 -
9-114662783-C-T UGCG c.98+3190C>T - IntronicSNV - 1/8
3-12393125-C-G PPARG c.1-28080C>G - IntronicSNV - 1/6
14-100133942-T-A HHIPL1 c.1649-617T>A - IntronicSNV - 6/8
3-46003742-C-T FYCO1 c.3412G>A p.Glu1138Lys Missense 11/18 -
7-143099107-T-C EPHA1 c.151-409A>G - IntronicSNV - 2/17
3-46005478-G-A FYCO1 c.3269+350C>T - IntronicSNV - 10/17
13-33628239-G-A KL c.1155G>A p.Lys385Lys Synonymous 2/5 -
10-17211383-T-C TRDMT1 c.175-467A>G - IntronicSNV - 2/10
1-11850927-C-T MTHFR c.1781G>A p.Arg594Gln Missense 12/12 -
11-59945745-T-C MS4A6A c.411A>G p.Leu137Leu Synonymous 5/7 -
10-108659754-A-G SORCS1 c.626+56517T>C - IntronicSNV - 2/25
10-60148692-A-C TFAM c.441+113A>C - IntronicSNV - 4/6
10-72639621-C-T SGPL1 c.*2529C>T - 3-UTRSNV 15/15 -
8-27195121-T-C PTK2B c.-38+11923T>C - intron_variant - 2/31
6-11774583-A-G ADTRP c.153+4257T>C - IntronicSNV - 1/5
19-9952743-G-T PIN1 c.271+3419G>T - IntronicSNV - 2/3
11-36103442-C-G LDLRAD3 c.319+114C>G - IntronicSNV - 3/5
12-57602815-C-A LRP1 c.12146-51C>A - IntronicSNV - 78/88
17-47587819-C-T NGFR c.614C>T p.Ser205Leu Missense 4/6 -
10-5147909-G-A AKR1C3 c.929+40G>A - IntronicSNV - 8/8
10-94374377-C-T KIF11 c.1032+1001C>T - IntronicSNV - 8/21
20-31366243-A-G DNMT3B c.1-1887A>G - IntronicSNV - 1/22
17-47587712-G-T NGFR c.569-62G>T - IntronicSNV - 3/5
10-73576307-C-T PSAP c.*891G>A - 3-UTRSNV 14/14 -
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
7-143097320-C-T EPHA1 c.433-174G>A - IntronicSNV - 3/17
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 -
5-179250130-C-T SQSTM1 c.49+77C>T - IntronicSNV - 3/8
5-179250130-C-G SQSTM1 c.49+77C>G - IntronicSNV - 3/8
14-74966763-G-A LTBP2 c.*824C>T - 3-UTRSNV 36/36 -
6-32007849-G-C CYP21A2 c.806G>C p.Ser269Thr Missense 7/10 -
1-11850365-T-G MTHFR c.*372A>C - 3-UTRSNV 12/12 -
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 -
15-51591204-T-C CYP19A1 c.-39+39488A>G - intron_variant - 1/9
11-36177734-C-T LDLRAD3 c.454+57723C>T - IntronicSNV - 4/5
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 -
11-223272-A-G SIRT3 c.543+806T>C - IntronicSNV - 5/6
1-101188192-G-A VCAM1 c.341-384G>A - IntronicSNV - 2/8
1-101188192-G-C VCAM1 c.341-384G>C - IntronicSNV - 2/8
17-7285831-C-T TNK1 c.1-415C>T - IntronicSNV - 1/12
8-27463618-C-T CLU c.417+253G>A - IntronicSNV - 4/8
16-72093017-G-A HP c.372G>A p.Val124Val Synonymous 6/7 -
6-151213211-T-C MTHFD1L c.780+4094T>C - IntronicSNV - 7/27
3-46007702-T-C FYCO1 c.3057+67A>G - IntronicSNV - 8/17
12-57567762-C-A LRP1 c.3546C>A p.Cys1182* Nonsense 22/89 -
7-24324588-C-T NPY c.1-272C>T - IntronicSNV - 1/3
9-32412622-C-T ACO1 c.404+3973C>T - IntronicSNV - 4/20
9-99038030-G-A HSD17B3 c.202-20805C>T - IntronicSNV - 2/10
10-52154517-G-A SGMS1 c.-232+38719C>T - intron_variant - 6/10
17-2126504-G-C SMG6 c.145+13282C>G - IntronicSNV - 3/11
13-33627760-A-G KL c.820-144A>G - IntronicSNV - 1/4
11-61731977-G-C FTH1 c.*222C>G - 3-UTRSNV 4/4 -
11-61731977-G-A FTH1 c.*222C>T - 3-UTRSNV 4/4 -
10-52131993-G-A SGMS1 c.1-28119C>T - IntronicSNV - 6/10
16-72094348-G-C HP c.780G>C p.Glu260Asp Missense 7/7 -
9-32450043-T-C ACO1 c.2604T>C p.Asp868Asp Synonymous 21/21 -
12-57567762-C-T LRP1 c.3546C>T p.Cys1182Cys Synonymous 22/89 -
10-69668014-G-T SIRT1 c.1170+132G>T - IntronicSNV - 6/8
3-154827787-C-T MME c.197-4996C>T - IntronicSNV - 3/22
19-10291181-T-C DNMT1 c.290A>G p.His97Arg Missense 4/40 -
11-47261260-G-A ACP2 c.*407C>T - 3-UTRSNV 11/11 -
3-46008790-G-A FYCO1 c.2036C>T p.Ala679Val Missense 8/18 -
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
12-50529736-G-A CERS5 c.753C>T p.Asp251Asp Synonymous 7/10 -
22-46610067-G-A PPARA c.209-1003G>A - IntronicSNV - 3/7
12-13717508-G-A GRIN2B c.2664C>T p.Thr888Thr Synonymous 13/13 -
3-12381410-G-A PPARG c.1-39795G>A - IntronicSNV - 1/6
11-36059983-A-G LDLRAD3 c.193+2184A>G - IntronicSNV - 2/5
5-54742941-G-A PLPP1 c.495-5205C>T - IntronicSNV - 3/5
2-25524944-T-C DNMT3A c.73-1832A>G - IntronicSNV - 2/22
1-11862214-T-C MTHFR c.236+724A>G - IntronicSNV - 2/11
X-91835588-A-T PCDH11X c.3338-37675A>T - IntronicSNV - 5/5
6-30611350-C-T ATAT1 c.*11C>T - 3-UTRSNV 11/11 -
6-28257377-T-C PGBD1 c.642+2432T>C - IntronicSNV - 4/6
19-49126587-T-G SPHK2 c.40-2738T>G - IntronicSNV - 2/6
10-104596924-C-T CYP17A1 c.195G>A p.Ser65Ser Synonymous 1/8 -
1-156785617-G-T SH2D2A c.123+181C>A - IntronicSNV - 2/8
13-33592777-T-C KL c.819+1380T>C - IntronicSNV - 1/4
1-11181327-C-T MTOR c.6909G>A p.Leu2303Leu Synonymous 49/58 -
1-119958862-G-A HSD3B2 c.142+678G>A - IntronicSNV - 2/3
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
17-42423665-A-G GRN c.-8+963A>G - intron_variant - 1/12
X-91835588-A-G PCDH11X c.3338-37675A>G - IntronicSNV - 5/5
15-101073157-T-C CERS3 c.-354-3877A>G - intron_variant - 1/12
22-46636470-C-T PPARA c.*5193C>T - 3-UTRSNV 8/8 -
11-36226559-C-T LDLRAD3 c.455-22076C>T - IntronicSNV - 4/5
3-12376745-G-C PPARG c.1-44460G>C - IntronicSNV - 1/6
19-51741143-A-G CD33 c.925-1630A>G - IntronicSNV - 6/6
15-101002738-G-C CERS3 c.846-6487C>G - IntronicSNV - 11/12
15-101002738-G-A CERS3 c.846-6487C>T - IntronicSNV - 11/12
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 -
4-23844330-T-C PPARGC1A c.235-10956A>G - IntronicSNV - 2/12
10-17204187-G-A TRDMT1 c.301C>T p.His101Tyr Missense 4/11 -
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 -
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
10-108923118-C-T SORCS1 c.558+609G>A - IntronicSNV - 1/25
12-57589659-C-T LRP1 c.8574C>T p.Cys2858Cys Synonymous 54/89 -
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 -
13-33609282-A-G KL c.819+17885A>G - IntronicSNV - 1/4
22-41903813-A-C ACO2 c.192A>C p.Thr64Thr Synonymous 3/18 -
12-57595066-G-A LRP1 c.10345+130G>A - IntronicSNV - 65/88
8-17931704-C-T ASAH1 c.173+1346G>A - IntronicSNV - 2/13
14-64873599-A-C MTHFD1 c.127-4209A>C - IntronicSNV - 2/27
13-33592070-A-G KL c.819+673A>G - IntronicSNV - 1/4
16-10033918-A-G GRIN2A c.415-1510T>C - IntronicSNV - 3/13
2-25551130-C-T DNMT3A c.-178+13565G>A - intron_variant - 1/22
9-114690253-G-A UGCG c.558+1477G>A - IntronicSNV - 5/8
3-12450354-G-A PPARG c.735+2774G>A - 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
19-45403858-A-G TOMM40 c.644-129A>G - IntronicSNV - 6/9
2-68413348-G-T PPP3R1 c.465+252C>A - IntronicSNV - 5/5
6-52051274-G-A IL17A c.27+18G>A - IntronicSNV - 1/2
11-73715134-C-T UCP3 c.644-82G>A - IntronicSNV - 5/6
15-74638965-A-T CYP11A1 c.425+1276T>A - IntronicSNV - 2/8
2-149452801-G-A EPC2 c.313+4859G>A - IntronicSNV - 2/13
3-46025941-T-G FYCO1 c.55+407A>C - IntronicSNV - 2/17
17-38231853-T-C THRA c.53+1059T>C - IntronicSNV - 2/9
17-38231853-T-G THRA c.53+1059T>G - IntronicSNV - 2/9
10-52360372-A-G SGMS1 c.-683-10365T>C - intron_variant - 1/10
10-88069416-G-C GRID1 c.235+54282C>G - IntronicSNV - 2/15
1-222823529-A-C MIA3 c.3632-105A>C - IntronicSNV - 8/27
11-221824-G-A SIRT3 c.543+2254C>T - IntronicSNV - 5/6
5-6657808-C-T SRD5A1 c.562+1516C>T - IntronicSNV - 3/4
4-23849467-T-G PPARGC1A c.235-16093A>C - IntronicSNV - 2/12
16-46696284-G-A VPS35 c.1938C>T p.His646His Synonymous 15/17 -
13-33599198-A-T KL c.819+7801A>T - IntronicSNV - 1/4
3-45962603-A-G FYCO1 c.*654T>C - 3-UTRSNV 18/18 -
1-101203698-C-T VCAM1 c.2079C>T p.Asp693Asp Synonymous 9/9 -
2-169401278-C-T CERS6 c.171-2828C>T - IntronicSNV - 1/9
14-64899055-A-C MTHFD1 c.1494+476A>C - IntronicSNV - 15/27
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
2-217505337-T-C IGFBP2 c.442+6649T>C - IntronicSNV - 1/3
3-12450354-G-T PPARG c.735+2774G>T - IntronicSNV - 5/6
10-94414263-A-T KIF11 c.*710A>T - 3-UTRSNV 22/22 -
19-1054060-A-G ABCA7 c.3528A>G p.Leu1176Leu Synonymous 26/47 -
20-44538427-T-C PLTP c.330-117A>G - IntronicSNV - 4/15
10-52351438-G-T SGMS1 c.-683-1431C>A - intron_variant - 1/10
11-36103228-A-T LDLRAD3 c.219A>T p.Pro73Pro Synonymous 3/6 -
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
10-72623954-A-G SGPL1 c.616-4148A>G - IntronicSNV - 7/14
1-119960008-G-A HSD3B2 c.142+1824G>A - IntronicSNV - 2/3
1-119958011-C-T HSD3B2 c.1-32C>T - 5-UTRSNV 2/4 -
19-45409579-C-G APOE c.1-303C>G - IntronicSNV - 1/3
8-17931704-C-G ASAH1 c.173+1346G>C - IntronicSNV - 2/13
14-104152352-C-G KLC1 c.*396C>G - 3_prime_UTR_variant 15/15 -
19-45409579-C-T APOE c.1-303C>T - IntronicSNV - 1/3
10-5138747-A-G AKR1C3 c.230A>G p.Glu77Gly Missense 2/9 -
1-207786289-A-T CR1 c.5225+903A>T - IntronicSNV - 31/38
3-12466214-G-A PPARG c.1186+7561G>A - IntronicSNV - 6/6
1-207786289-A-G CR1 c.5225+903A>G - IntronicSNV - 31/38
19-9959014-G-A PIN1 c.382+198G>A - IntronicSNV - 3/3
1-11854671-C-A MTHFR c.1167-76G>T - IntronicSNV - 7/11
11-36185448-C-T LDLRAD3 c.455-63187C>T - IntronicSNV - 4/5
20-44532255-A-G PLTP c.943-1012T>C - IntronicSNV - 10/15
7-22768707-T-G IL6 c.324+282T>G - IntronicSNV - 3/4
7-22768707-T-A IL6 c.324+282T>A - IntronicSNV - 3/4
15-100997743-A-C CERS3 c.846-1492T>G - IntronicSNV - 11/12
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 -
17-42085972-C-T NAGS c.*3C>T - 3-UTRSNV 7/7 -
19-11216561-A-C LDLR c.694+285A>C - IntronicSNV - 4/17
19-11216561-A-T LDLR c.694+285A>T - IntronicSNV - 4/17
2-127830299-C-G BIN1 c.166-1907G>C - IntronicSNV - 2/18
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
10-52285511-A-G SGMS1 c.-588-5830T>C - intron_variant - 2/10
4-23885568-G-A PPARGC1A c.234+807C>T - IntronicSNV - 2/12
2-223324589-T-C SGPP2 c.220-14698T>C - IntronicSNV - 1/4
8-143999172-C-T CYP11B2 c.85G>A p.Ala29Thr Missense 1/9 -
17-42030965-C-T PYY c.1-114G>A - IntronicSNV 4/7 -
17-42030965-C-G PYY c.1-114G>C - IntronicSNV 4/7 -
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
22-46630634-G-C PPARA c.1160-396G>C - IntronicSNV - 7/7
1-11864586-T-C MTHFR c.-14+1359A>G - intron_variant - 1/11
10-17188385-A-G TRDMT1 c.*2654T>C - 3-UTRSNV 11/11 -
2-149423647-G-A EPC2 c.153+20908G>A - IntronicSNV - 1/13
19-10395796-C-T ICAM1 c.1432C>T p.Arg478Trp Missense 7/7 -
19-10395796-C-G ICAM1 c.1432C>G p.Arg478Gly Missense 7/7 -
3-12414420-T-C PPARG c.1-6785T>C - IntronicSNV - 1/6
17-47591609-T-G NGFR c.*1238T>G - 3-UTRSNV 6/6 -
14-100384232-A-C EML1 c.1877+46A>C - IntronicSNV - 17/22
16-67476315-G-C ATP6V0D1 c.561+687C>G - IntronicSNV - 4/7
11-78068039-T-C GAB2 c.75+60653A>G - IntronicSNV - 1/9
10-52279502-T-C SGMS1 c.-498+89A>G - intron_variant - 3/10
3-133476083-G-A TF c.870+230G>A - IntronicSNV - 7/16
2-31765556-C-A SRD5A2 c.279-6720G>T - intron_variant - 2/5
4-156132216-G-C NPY2R c.-49+1995G>C - intron_variant - 1/1
2-31765556-C-T SRD5A2 c.279-6720G>A - 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 -
19-45401666-A-G TOMM40 c.644-2321A>G - IntronicSNV - 6/9
15-101083687-G-C CERS3 c.-355+1169C>G - intron_variant - 1/12
22-42206084-G-A CCDC134 c.225+80G>A - IntronicSNV - 3/6
1-156846233-G-T NTRK1 c.1674G>T p.Gln558His Missense 14/17 -
10-108482088-C-T SORCS1 c.1024+7720G>A - IntronicSNV - 6/25
22-46590278-A-G PPARA c.1-4003A>G - IntronicSNV - 2/7
3-148904434-T-G CP c.1950A>C p.Gly650Gly Synonymous 11/19 -
3-138119952-T-C MRAS c.527+497T>C - IntronicSNV - 5/5
6-47538130-A-G CD2AP c.542-3670A>G - IntronicSNV - 5/17
4-164246489-T-G NPY1R c.1121A>C p.Lys374Thr Missense 3/3 -
8-17930999-A-G ASAH1 c.173+2051T>C - IntronicSNV - 2/13
1-207692049-A-T CR1 c.488-4907A>T - IntronicSNV - 4/38
19-18988666-T-C GDF1 c.-313+1073A>G - intron_variant - 6/7
1-207692049-A-G CR1 c.488-4907A>G - IntronicSNV - 4/38
2-68418293-G-A PPP3R1 c.44-2471C>T - IntronicSNV - 2/5
11-36202307-G-A LDLRAD3 c.455-46328G>A - IntronicSNV - 4/5
16-46736263-C-T MYLK3 c.*5353G>A - 3-UTRSNV 13/13 -
10-104595849-G-C CYP17A1 c.298-700C>G - IntronicSNV - 1/7
10-52327409-T-A SGMS1 c.-589+22504A>T - intron_variant - 2/10
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
13-33593100-C-A KL c.819+1703C>A - IntronicSNV - 1/4
10-91002927-C-T LIPA c.229+2506G>A - IntronicSNV - 3/9
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 -
6-151199071-A-G MTHFD1L c.417+109A>G - IntronicSNV - 4/27
19-1049012-A-C ABCA7 c.2380+8A>C - IntronicSNV - 17/46
19-18974200-A-G UPF1 c.2601-47A>G - IntronicSNV - 18/23
19-49132634-G-A SPHK2 c.1392G>A p.Leu464Leu Synonymous 7/7 -
14-64908845-G-A MTHFD1 c.1958G>A p.Arg653Gln Missense 20/28 -
16-46705502-T-C VPS35 c.1524+115A>G - IntronicSNV - 12/16
21-45681153-T-C DNMT3L c.1-11A>G - IntronicSNV - 1/11
12-13791698-C-G GRIN2B c.1126-22107G>C - IntronicSNV - 4/12
17-61573761-T-G ACE c.3387T>G p.Phe1129Leu Missense 23/25 -
10-114808902-G-T TCF7L2 c.483+9017G>T - IntronicSNV - 4/13
10-114808902-G-A TCF7L2 c.483+9017G>A - IntronicSNV - 4/13
11-36125752-G-T LDLRAD3 c.454+5741G>T - IntronicSNV - 4/5
10-104595849-G-A CYP17A1 c.298-700C>T - IntronicSNV - 1/7
16-68398432-C-T SMPD3 c.1555+222G>A - IntronicSNV - 5/8
14-64859191-C-T MTHFD1 c.41+4005C>T - IntronicSNV - 1/27
10-73597960-A-G PSAP c.41-3698T>C - IntronicSNV - 1/13
17-61560763-T-C ACE c.1488-58T>C - IntronicSNV - 9/24
2-127826533-A-G BIN1 c.486T>C p.Thr162Thr Synonymous 6/19 -
7-143087432-G-A ZYX c.1615-239G>A - IntronicSNV - 9/9
22-46641598-G-A CDPF1 c.226-463C>T - IntronicSNV - 3/3
19-11241915-A-G LDLR c.2548-42A>G - IntronicSNV - 17/17
7-22768249-G-T IL6 c.211-63G>T - IntronicSNV - 2/4
9-114695826-T-A UGCG c.*549T>A - IntergenicSNV 9/9 -
19-45728123-C-T EXOC3L2 c.453G>A p.Pro151Pro Synonymous 6/10 -
10-88053082-A-G GRID1 c.235+70616T>C - IntronicSNV - 2/15
11-36190543-G-A LDLRAD3 c.455-58092G>A - IntronicSNV - 4/5
8-27464519-T-C CLU c.247-478A>G - IntronicSNV - 3/8
21-27269932-C-T APP c.2017G>A p.Ala673Thr Missense 16/18 -
6-47548323-T-C CD2AP c.1009-277T>C - IntronicSNV - 9/17
19-10403947-T-C ICAM5 c.1465+25T>C - IntronicSNV - 6/10
3-46007802-A-T FYCO1 c.3024T>A p.Ser1008Arg Missense 8/18 -
6-35034800-G-C ANKS1A c.2184+6770G>C - IntronicSNV - 13/23
11-85686096-T-A PICALM c.1840-241A>T - IntronicSNV - 18/19
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-T PPP3R1 c.466-895C>A - IntronicSNV - 5/5
10-104592675-G-C CYP17A1 c.969+75C>G - IntronicSNV - 5/7
X-38250780-C-G OTC c.387-9748C>G - IntronicSNV - 4/9
19-45403412-C-T TOMM40 c.644-575C>T - IntronicSNV - 6/9
3-46003762-T-G FYCO1 c.3392A>C p.Asn1131Thr Missense 11/18 -
3-46003762-T-C FYCO1 c.3392A>G p.Asn1131Ser Missense 11/18 -
11-36163555-C-T LDLRAD3 c.454+43544C>T - IntronicSNV - 4/5
16-68411283-C-G SMPD3 c.1-5199G>C - IntronicSNV - 1/8
16-72088461-A-C HP c.1-91A>C - IntergenicSNV 1/7 -
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
10-73605853-G-C PSAP c.40+5086C>G - IntronicSNV - 1/13
1-11190646-G-C MTOR c.5553C>G p.Ser1851Arg Missense 39/58 -
11-36033069-T-C LDLRAD3 c.47-24584T>C - IntronicSNV - 1/5
17-74383475-T-A SPHK1 c.1005T>A p.Tyr335* Nonsense 6/6 -
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 -
11-36025118-G-A LDLRAD3 c.47-32535G>A - IntronicSNV - 1/5
22-42191636-A-G MEI1 c.3666+90A>G - IntronicSNV - 29/30
16-68468658-C-G SMPD3 c.-269+13598G>C - intron_variant - 1/8
11-73716277-G-C UCP3 c.541+498C>G - IntronicSNV - 4/6
10-52007969-G-A ASAH2 c.127+275C>T - IntronicSNV - 1/19
1-211748118-C-T SLC30A1 c.*612G>A - IntergenicSNV 2/2 -
15-51520206-T-C CYP19A1 c.297-76A>G - IntronicSNV - 3/9
16-87434125-T-G MAP1LC3B c.96+1649T>G - IntronicSNV - 2/3
17-61574215-C-T ACE c.3560C>T p.Thr1187Met Missense 24/25 -
19-9955341-T-C PIN1 c.272-3365T>C - IntronicSNV - 2/3
11-73689104-G-A UCP2 c.164C>T p.Ala55Val Missense 4/8 -
10-73586585-A-G PSAP c.721-935T>C - IntronicSNV - 6/13
19-1051214-A-G ABCA7 c.2745A>G p.Val915Val Synonymous 20/47 -
9-90192991-C-T DAPK1 c.63-26878C>T - IntronicSNV - 2/25
14-88409527-G-A GALC c.1671-1625C>T - IntronicSNV - 14/16
14-64862555-A-G MTHFD1 c.42-4956A>G - IntronicSNV - 1/27
X-38226603-A-G OTC c.137A>G p.Lys46Arg Missense 2/10 -
1-156818647-T-G INSRR c.1571+66A>C - IntronicSNV - 7/21
10-88029586-C-T GRID1 c.236-63181G>A - IntronicSNV - 2/15
11-77996403-C-A GAB2 c.76-4456G>T - IntronicSNV - 1/9
19-1047002-A-G ABCA7 c.1824A>G p.Ala608Ala Synonymous 14/47 -
2-31782280-A-G SRD5A2 c.278+23410T>C - intron_variant - 2/5
1-162770647-A-G HSD17B7 c.642+920A>G - IntronicSNV - 5/8
19-10268974-G-T DNMT1 c.1232+1360C>A - IntronicSNV - 16/39
1-119960376-G-T HSD3B2 c.143-1665G>T - IntronicSNV - 2/3
19-45737218-A-C EXOC3L2 c.-23+233T>G - intron_variant - 1/9
9-6242950-C-G IL33 c.91+1165C>G - IntronicSNV - 2/7
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-G HSD3B1 c.145+219A>G - IntronicSNV - 2/3
13-33590971-C-A KL c.393C>A p.Asn131Lys Missense 1/5 -
13-33590971-C-T KL c.393C>T p.Asn131Asn Synonymous 1/5 -
6-28263721-T-G PGBD1 c.643-872T>G - IntronicSNV - 4/6
12-14117043-A-T GRIN2B c.-19+15819T>A - intron_variant - 1/12
16-46727058-C-A ORC6 c.413C>A p.Pro138Gln Missense 4/7 -
16-46727058-C-T ORC6 c.413C>T p.Pro138Leu Missense 4/7 -
14-88414603-T-C GALC c.1339-381A>G - IntronicSNV - 12/16
10-52108830-C-T SGMS1 c.1-4956G>A - IntronicSNV - 6/10
10-75249611-C-T PPP3CB c.85+5952G>A - IntronicSNV - 1/13
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
3-12475557-C-T PPARG c.1347C>T p.His449His Synonymous 7/7 -
15-51548310-A-G CYP19A1 c.1-13201T>C - IntronicSNV - 1/9
10-17203970-C-T TRDMT1 c.323+195G>A - IntronicSNV - 4/10
10-73589418-T-C PSAP c.376-584A>G - IntronicSNV - 4/13
11-121475922-T-A SORL1 c.4752T>A p.Ala1584Ala Synonymous 34/48 -
10-52338100-A-G SGMS1 c.-589+11813T>C - intron_variant - 2/10
13-33628138-T-A KL c.1054T>A p.Phe352Ile Missense 2/5 -
9-114695826-T-C UGCG c.*549T>C - IntergenicSNV 9/9 -
17-44101563-T-C MAPT c.*26T>C - 3-UTRSNV 14/14 -
15-78764285-A-G IREB2 c.883+19A>G - IntronicSNV - 7/21
4-23890782-G-A PPARGC1A c.54+745C>T - IntronicSNV - 1/12
3-12434608-G-T PPARG c.535+357G>T - IntronicSNV - 4/6
2-25491056-A-G DNMT3A c.639+6754T>C - IntronicSNV - 6/22
2-25485735-C-T DNMT3A c.639+12075G>A - IntronicSNV - 6/22
5-167845791-C-T WWC1 c.1185-3222C>T - IntronicSNV - 9/22
2-68477948-T-C PPP3R1 c.3+1309A>G - IntronicSNV - 1/5
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
3-46007846-C-T FYCO1 c.2980G>A p.Glu994Lys Missense 8/18 -
11-121349111-A-G SORL1 c.528+159A>G - IntronicSNV - 3/47
11-219089-T-C SIRT3 c.544-48A>G - IntronicSNV - 5/6
11-224832-T-C SIRT3 c.382-593A>G - IntronicSNV - 4/6
1-120050463-A-T HSD3B1 c.145+219A>T - IntronicSNV - 2/3
17-42427630-T-C GRN c.384T>C p.Asp128Asp Synonymous 5/13 -
19-33687750-C-T LRP3 c.121+67C>T - IntronicSNV - 2/6
22-46555321-T-C PPARA c.-43+7448T>C - intron_variant - 2/7
12-12405872-A-G LRP6 c.56-8283T>C - IntronicSNV - 1/22
11-78164984-T-G NARS2 c.1165-10180A>C - IntronicSNV - 11/13
7-143093824-G-A EPHA1 c.1772-221C>T - IntronicSNV - 10/17
11-36103228-A-G LDLRAD3 c.219A>G p.Pro73Pro Synonymous 3/6 -
9-114662783-C-A UGCG c.98+3190C>A - IntronicSNV - 1/8
12-57578288-C-T LRP1 c.6186+53C>T - IntronicSNV - 38/88
13-33628138-T-G KL c.1054T>G p.Phe352Val Missense 2/5 -
6-109752451-T-C PPIL6 c.329A>G p.His110Arg Missense 3/9 -
11-73716277-G-A UCP3 c.541+498C>T - IntronicSNV - 4/6
11-73691774-T-C UCP2 c.-100+747A>G - intron_variant - 2/7
19-288246-T-C PLPP2 c.53-75A>G - IntronicSNV - 1/5
19-288246-T-G PLPP2 c.53-75A>C - IntronicSNV - 1/5
21-45675877-G-T DNMT3L c.604+73C>A - IntronicSNV - 7/11
8-143994266-A-C CYP11B2 c.1157T>G p.Val386Gly Missense 7/9 -
17-40971770-C-T BECN1 c.198-143G>A - intron_variant - 3/11
8-143994266-A-G CYP11B2 c.1157T>C p.Val386Ala Missense 7/9 -
19-51728477-C-T CD33 c.41C>T p.Ala14Val Missense 2/7 -
8-27467686-C-G CLU c.97+306G>C - IntronicSNV - 2/8
8-27467686-C-T CLU c.97+306G>A - IntronicSNV - 2/8
17-44054696-G-A MAPT c.308-1045G>A - IntronicSNV - 4/13
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
19-10382537-G-A ICAM1 c.67+635G>A - IntronicSNV - 1/6
2-31805706-G-A SRD5A2 c.262C>T - synonymous_variant 2/6 -
2-31805706-G-T SRD5A2 c.262C>A - missense_variant 2/6 -
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 -
8-96054000-C-T NDUFAF6 c.477+146C>T - IntronicSNV - 4/8
15-51510702-T-A CYP19A1 c.743+36A>T - IntronicSNV - 6/9
10-52345974-G-A SGMS1 c.-589+3939C>T - intron_variant - 2/10
13-33596189-A-T KL c.819+4792A>T - IntronicSNV - 1/4
6-109767930-G-T MICAL1 c.2273C>A p.Ala758Glu Missense 18/25 -
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-G CD33 c.41C>G p.Ala14Gly Missense 2/7 -
19-49468642-G-A FTL c.1-123G>A - 5-UTRSNV 1/4 -
7-107244545-C-T BCAP29 c.589+3595C>T - IntronicSNV - 6/7
4-164268028-T-A NPY5R c.-80-576T>A - intron_variant - 2/3
19-51728641-A-G CD33 c.205A>G p.Arg69Gly Missense 2/7 -
3-133485454-A-G TF c.1486+177A>G - IntronicSNV - 12/16
10-104591393-G-T CYP17A1 c.1140-25C>A - IntronicSNV - 6/7
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
8-143954769-G-T CYP11B1 c.*1020C>A - 3-UTRSNV 9/9 -
17-42430244-C-T GRN c.*78C>T - 3-UTRSNV 13/13 -
1-222823529-A-T MIA3 c.3632-105A>T - IntronicSNV - 8/27
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
X-91402220-T-C PCDH11X c.3034-54154T>C - IntronicSNV - 2/5
X-91402220-T-A PCDH11X c.3034-54154T>A - IntronicSNV - 2/5
3-46034086-G-A FYCO1 c.-113+3128C>T - intron_variant - 1/17
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 -
2-127830299-C-T BIN1 c.166-1907G>A - IntronicSNV - 2/18
7-100235970-C-A TFR2 c.473+2339G>T - IntronicSNV - 3/17
20-23618427-C-G CST3 c.73G>C p.Ala25Pro Missense 1/3 -
10-52315428-A-C SGMS1 c.-589+34485T>G - intron_variant - 2/10
1-11288758-G-A MTOR c.2997C>T p.Asn999Asn Synonymous 19/58 -
7-24330765-A-C NPY c.270-517A>C - IntronicSNV - 3/3
8-143955097-C-A CYP11B1 c.*692G>T - 3-UTRSNV 9/9 -
8-143955097-C-T CYP11B1 c.*692G>A - 3-UTRSNV 9/9 -
4-23815662-C-T PPARGC1A c.1444G>A p.Gly482Ser Missense 8/13 -
10-52301422-G-C SGMS1 c.-588-21741C>G - intron_variant - 2/10
1-222823529-A-G MIA3 c.3632-105A>G - IntronicSNV - 8/27
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
15-51570929-C-T CYP19A1 c.1-35820G>A - IntronicSNV - 1/9
6-109758678-C-T PPIL6 c.136-1276G>A - IntronicSNV - 1/8
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-T MTOR c.2997C>A p.Asn999Lys Missense 19/58 -
1-101204495-C-A VCAM1 c.*656C>A - 3-UTRSNV 9/9 -
22-46615376-G-A PPARA c.509-333G>A - IntronicSNV - 5/7
16-46703283-G-T VPS35 c.1525-319C>A - IntronicSNV - 12/16
9-6254208-C-T IL33 c.521-254C>T - IntronicSNV - 6/7
11-35968743-T-C LDLRAD3 c.46+3049T>C - IntronicSNV - 1/5
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 -
14-88409527-G-T GALC c.1671-1625C>A - IntronicSNV - 14/16
X-38265039-C-T OTC c.663+2046C>T - IntronicSNV - 6/9
10-5144768-C-A AKR1C3 c.772C>A p.Arg258Ser Missense 7/9 -
19-10340912-A-C S1PR2 c.-43+968T>G - intron_variant - 1/1
19-49136515-T-C DBP c.762+186A>G - IntronicSNV - 3/3
10-5144768-C-T AKR1C3 c.772C>T p.Arg258Cys Missense 7/9 -
13-33630055-C-T KL c.1599+603C>T - IntronicSNV - 3/4
3-12344636-A-G PPARG c.-3+15117A>G - intron_variant - 1/6
4-23815522-C-T PPARGC1A c.1584G>A p.Thr528Thr Synonymous 8/13 -
19-9946917-A-T PIN1 c.58+839A>T - IntronicSNV - 1/3
1-156848946-G-T NTRK1 c.1838G>T p.Gly613Val Missense 15/17 -
4-23815522-C-G PPARGC1A c.1584G>C p.Thr528Thr Synonymous 8/13 -
8-17922414-A-T ASAH1 c.431-374T>A - IntronicSNV - 5/13
8-17922414-A-G ASAH1 c.431-374T>C - IntronicSNV - 5/13
19-11242044-G-A LDLR c.*52G>A - 3-UTRSNV 18/18 -
13-33596189-A-G KL c.819+4792A>G - IntronicSNV - 1/4
10-52002800-T-C ASAH2 c.510+162A>G - IntronicSNV - 3/19
19-45395619-A-G TOMM40 c.275-31A>G - IntronicSNV - 2/9
19-8321946-T-G CERS4 c.726T>G p.Ser242Ser Synonymous 9/12 -
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-A SGMS1 c.-588-21741C>T - intron_variant - 2/10
16-46723079-C-T VPS35 c.1-34G>A - 5-UTRSNV 1/17 -
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-A COPE c.750A>T p.Pro250Pro Synonymous 8/10 -
19-19011244-T-G COPE c.750A>C p.Pro250Pro Synonymous 8/10 -
19-45448465-T-G APOC4 c.287T>G p.Leu96Arg Missense 3/3 -
10-88069416-G-A GRID1 c.235+54282C>T - IntronicSNV - 2/15
17-47591035-C-T NGFR c.*664C>T - 3-UTRSNV 6/6 -
13-33631731-C-T KL c.1599+2279C>T - IntronicSNV - 3/4
16-46731413-T-C ORC6 c.675T>C p.Asp225Asp Synonymous 7/7 -
19-10394792-G-A ICAM1 c.721G>A p.Gly241Arg Missense 4/7 -
10-73585526-A-G PSAP c.777+68T>C - IntronicSNV - 7/13
15-101002255-G-A CERS3 c.846-6004C>T - IntronicSNV - 11/12
14-74963446-C-T ISCA2 c.*1743C>T - IntergenicSNV 4/4 -
10-52120612-A-G SGMS1 c.1-16738T>C - IntronicSNV - 6/10
4-23795064-C-T PPARGC1A c.*2381G>A - 3-UTRSNV 13/13 -
11-36044370-C-A LDLRAD3 c.47-13283C>A - IntronicSNV - 1/5
1-11867180-T-G CLCN6 c.88-8T>G - IntronicSNV - 1/22
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-T CYP11B1 c.1157C>A p.Ala386Glu Missense 7/9 -
19-1047161-A-G ABCA7 c.1851A>G p.Gly617Gly Synonymous 15/47 -
8-143956693-G-A CYP11B1 c.1157C>T p.Ala386Val Missense 7/9 -
10-60148692-A-T TFAM c.441+113A>T - IntronicSNV - 4/6
10-94398118-A-G KIF11 c.2160+816A>G - IntronicSNV - 16/21
9-87342727-A-T NTRK2 c.1012A>T p.Asn338Tyr Missense 11/15 -
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
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
3-12334991-G-A PPARG c.-3+5472G>A - intron_variant - 1/6
8-17934029-T-C ASAH1 c.127-933A>G - IntronicSNV - 1/13
17-7292107-G-A TNK1 c.1777G>A p.Val593Met Missense 12/13 -
14-104137643-A-G KLC1 c.987+1023A>G - IntronicSNV - 7/14
19-45716678-G-C EXOC3L2 c.942-63C>G - IntronicSNV - 9/9
1-209906675-A-G HSD11B1 c.661+751A>G - IntronicSNV - 5/5
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
19-45409167-C-T APOE c.-24+69C>T - intron_variant - 1/3
1-101194205-C-A VCAM1 c.929-458C>A - IntronicSNV - 4/8
1-101194205-C-T VCAM1 c.929-458C>T - IntronicSNV - 4/8
2-25469502-C-T DNMT3A c.1266G>A p.Leu422Leu Synonymous 10/23 -
10-105213765-G-A CALHM1 c.*1254C>T - 3-UTRSNV 2/2 -
1-207808450-G-A CR1 c.6108-4292G>A - IntronicSNV - 38/38
10-94272864-C-T IDE c.784+1813G>A - IntronicSNV - 5/24
14-74952538-A-G NPC2 c.190+494T>C - IntronicSNV - 2/4
19-11238975-C-T LDLR c.2389+214C>T - IntronicSNV - 16/17
15-51547938-C-G CYP19A1 c.1-12829G>C - IntronicSNV - 1/9
11-60070176-A-G MS4A4A c.387+1646A>G - IntronicSNV - 4/5
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
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-T LDLRAD3 c.319+1208G>T - IntronicSNV - 3/5
9-98997810-C-T HSD17B3 c.865G>A p.Gly289Ser Missense 11/11 -
10-52360613-C-T SGMS1 c.-683-10606G>A - intron_variant - 1/10
1-154544651-G-T CHRNB2 c.1338+14G>T - IntronicSNV - 5/5
20-44540692-C-G PLTP c.-12+26G>C - 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 -
6-109768295-G-A MICAL1 c.2208C>T p.Tyr736Tyr Synonymous 17/25 -
14-100384232-A-T EML1 c.1877+46A>T - IntronicSNV - 17/22
3-133466155-C-T TF c.43+828C>T - IntronicSNV - 1/16
19-45447161-T-C APOC4 c.77-845T>C - IntronicSNV - 1/2
16-87436463-T-G MAP1LC3B c.204-66T>G - IntronicSNV - 3/3
16-87436463-T-C MAP1LC3B c.204-66T>C - IntronicSNV - 3/3
22-46591554-A-G PPARA c.1-2727A>G - IntronicSNV - 2/7
3-133466588-A-G TF c.44-668A>G - IntronicSNV - 1/16
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 -
11-36104536-G-A LDLRAD3 c.319+1208G>A - IntronicSNV - 3/5
6-109767803-A-T MICAL1 c.2304+96T>A - IntronicSNV - 18/24
14-64174022-C-T SGPP1 c.685-8646G>A - IntronicSNV - 1/2
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 -
9-114681583-C-A UGCG c.241-3546C>A - IntronicSNV - 2/8
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
11-36051537-A-G LDLRAD3 c.47-6116A>G - IntronicSNV - 1/5
20-31359697-G-A DNMT3B c.1-8433G>A - IntronicSNV - 1/22
22-46581385-C-A PPARA c.1-12896C>A - IntronicSNV - 2/7
22-46630634-G-T PPARA c.1160-396G>T - IntronicSNV - 7/7
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
11-61734028-C-T FTH1 c.114+756G>A - IntronicSNV - 1/3
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
2-127839781-C-A BIN1 c.85-5499G>T - IntronicSNV - 1/18
4-23866016-C-T PPARGC1A c.234+20359G>A - IntronicSNV - 2/12
2-127839781-C-T BIN1 c.85-5499G>A - IntronicSNV - 1/18
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 -
10-108512080-C-G SORCS1 c.959+9266G>C - IntronicSNV - 5/25
10-108512080-C-A SORCS1 c.959+9266G>T - IntronicSNV - 5/25
17-43986179-G-A MAPT c.-18+14127G>A - intron_variant - 1/13
22-46631660-A-G PPARA c.*383A>G - 3-UTRSNV 8/8 -
22-31011610-G-C TCN2 c.776G>C p.Arg259Pro Missense 6/9 -
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
19-45448036-T-C APOC4 c.107T>C p.Leu36Pro Missense 2/3 -
10-52119046-A-G SGMS1 c.1-15172T>C - IntronicSNV - 6/10
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
10-72614421-T-C SGPL1 c.262-44T>C - IntronicSNV - 4/14
10-72614421-T-G SGPL1 c.262-44T>G - IntronicSNV - 4/14
4-164271199-T-C NPY5R c.1-227T>C - IntronicSNV - 1/3
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
16-68411283-C-A SMPD3 c.1-5199G>T - IntronicSNV - 1/8
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
1-101187219-A-C VCAM1 c.340+912A>C - 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
16-72089740-A-G HP c.6-320A>G - IntronicSNV - 1/6
10-52083060-A-G SGMS1 c.741+3905T>C - IntronicSNV - 8/10
8-27460185-G-A CLU c.934+1623C>T - IntronicSNV - 6/8
11-36246782-A-G LDLRAD3 c.455-1853A>G - IntronicSNV - 4/5
11-85751883-A-G PICALM c.131-9230T>C - IntronicSNV - 1/19
6-109765818-C-G MICAL1 c.3055+110G>C - IntronicSNV - 24/24
3-195800811-C-T TFRC c.424G>A p.Gly142Ser Missense 4/19 -
12-50543422-T-C CERS5 c.198-5582A>G - IntronicSNV - 1/9
8-27470140-G-T CLU c.1-2052C>A - IntronicSNV - 1/8
5-179260153-C-G SQSTM1 c.624C>G p.Asp208Glu Missense 7/9 -
19-10273372-T-C DNMT1 c.931A>G p.Ile311Val Missense 12/40 -
19-10273372-T-G DNMT1 c.931A>C p.Ile311Leu Missense 12/40 -
2-169610232-A-G CERS6 c.846-11870A>G - IntronicSNV - 8/9
18-21142992-A-T NPC1 c.464-1501T>A - IntronicSNV - 4/24
2-217514772-G-T IGFBP2 c.443-10508G>T - IntronicSNV - 1/3
10-73594499-G-A PSAP c.41-237C>T - IntronicSNV - 1/13
7-143099107-T-G EPHA1 c.151-409A>C - IntronicSNV - 2/17
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
4-156135676-C-T NPY2R c.585C>T p.Ile195Ile Synonymous 2/2 -
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
21-45673649-T-C DNMT3L c.693+851A>G - IntronicSNV - 8/11
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
19-45395714-T-C TOMM40 c.339T>C p.Phe113Phe Synonymous 3/10 -
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
3-195789915-A-G TFRC c.1319-105T>C - IntronicSNV - 11/18
8-143957405-A-C CYP11B1 c.955-111T>G - IntronicSNV - 5/8
3-46008087-G-T FYCO1 c.2739C>A p.Cys913* Nonsense 8/18 -
3-46008087-G-A FYCO1 c.2739C>T p.Cys913Cys Synonymous 8/18 -
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
2-68409037-G-A PPP3R1 c.466-895C>T - IntronicSNV - 5/5
19-1048021-A-G ABCA7 c.2269+368A>G - IntronicSNV - 16/46
19-9959556-C-T PIN1 c.383-210C>T - IntronicSNV - 3/3
4-23880515-C-T PPARGC1A c.234+5860G>A - IntronicSNV - 2/12
10-94382950-T-C KIF11 c.1217+1720T>C - IntronicSNV - 10/21
11-36251811-A-C LDLRAD3 c.*864A>C - 3-UTRSNV 6/6 -
14-88429690-A-G GALC c.1161+38T>C - IntronicSNV - 10/16
18-21115060-A-G NPC1 c.3477+373T>C - IntronicSNV - 22/24
13-33613132-G-A KL c.820-14772G>A - IntronicSNV - 1/4
11-36205268-A-G LDLRAD3 c.455-43367A>G - IntronicSNV - 4/5
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
14-88456559-C-A GALC c.196-1692G>T - IntronicSNV - 1/16
2-25529624-A-C DNMT3A c.73-6512T>G - IntronicSNV - 2/22
17-74381555-G-A SPHK1 c.1-171G>A - 5-UTRSNV 2/6 -
12-57585144-C-G LRP1 c.7278C>G p.Ala2426Ala Synonymous 44/89 -
3-195777211-C-T TFRC c.*1602G>A - 3-UTRSNV 19/19 -
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
19-8324347-C-T CERS4 c.848+1478C>T - IntronicSNV - 10/11
1-115873047-G-T NGF c.-137+7778C>A - intron_variant - 1/2
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
8-143961102-C-T CYP11B1 c.128G>A p.Arg43Gln Missense 1/9 -
14-88428544-C-T GALC c.1161+1184G>A - IntronicSNV - 10/16
10-94414263-A-C KIF11 c.*710A>C - 3-UTRSNV 22/22 -
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 -
11-27679732-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
11-77963325-T-G GAB2 c.377-1879A>C - IntronicSNV - 2/9
10-105218252-A-G CALHM1 c.257T>C p.Leu86Pro Missense 1/2 -
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-A IDE c.1060+151C>T - IntronicSNV - 7/24
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
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
13-33622817-G-A KL c.820-5087G>A - IntronicSNV - 1/4
22-46569171-G-A PPARA c.-43+21298G>A - intron_variant - 2/7
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
10-72617256-A-T SGPL1 c.410-115A>T - IntronicSNV - 5/14
9-99064296-C-G HSD17B3 c.91G>C p.Val31Leu Missense 1/11 -
19-11242496-G-A LDLR c.*504G>A - 3-UTRSNV 18/18 -
9-99064296-C-T HSD17B3 c.91G>A p.Val31Ile Missense 1/11 -
10-94262359-T-A IDE c.1430+2192A>T - IntronicSNV - 11/24
11-85757589-C-T PICALM c.131-14936G>A - IntronicSNV - 1/19
10-52337406-T-C SGMS1 c.-589+12507A>G - intron_variant - 2/10
11-36139934-T-C LDLRAD3 c.454+19923T>C - IntronicSNV - 4/5
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 -
19-45404691-A-G TOMM40 c.946+124A>G - IntronicSNV - 9/9
19-45396899-T-C TOMM40 c.436-138T>C - IntronicSNV - 4/9
7-143092269-G-A EPHA1 c.2090C>T p.Pro697Leu Missense 13/18 -
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
10-73576307-C-G PSAP c.*891G>C - 3-UTRSNV 14/14 -
16-68438621-G-A SMPD3 c.-268-18059C>T - intron_variant - 1/8
16-68474620-A-G SMPD3 c.-269+7636T>C - intron_variant - 1/8
2-223335075-A-G SGPP2 c.220-4212A>G - IntronicSNV - 1/4
5-54769420-G-A PLPP1 c.214-5443C>T - IntronicSNV - 2/5
11-77975081-A-G GAB2 c.377-13635T>C - IntronicSNV - 2/9
11-60063596-G-T MS4A4A c.202-1074G>T - IntronicSNV - 2/5
16-68387496-A-C PRMT7 c.1650+27A>C - IntronicSNV - 16/18
8-17917866-T-C ASAH1 c.834-654A>G - IntronicSNV - 10/13
12-13715308-A-C GRIN2B c.*409T>G - 3-UTRSNV 13/13 -
12-13715308-A-G GRIN2B c.*409T>C - 3-UTRSNV 13/13 -
22-46586110-G-A PPARA c.1-8171G>A - IntronicSNV - 2/7
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
10-20380428-C-A PLXDC2 c.541+23260C>A - IntronicSNV - 4/13
2-149493222-A-C EPC2 c.314-7969A>C - IntronicSNV - 2/13
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
1-56993415-G-C PLPP3 c.298-3189C>G - IntronicSNV - 2/5
1-56993415-G-A PLPP3 c.298-3189C>T - IntronicSNV - 2/5
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
19-45459851-T-C CLPTM1 c.72+1127T>C - IntronicSNV - 1/13
2-127859418-T-C BIN1 c.84+5018A>G - IntronicSNV - 1/18
11-59943109-A-T MS4A6A c.424-25T>A - IntronicSNV - 5/6
X-91836167-G-A PCDH11X c.3338-37096G>A - IntronicSNV - 5/5
11-59942757-C-T MS4A6A c.633+118G>A - IntronicSNV - 6/6
10-75197051-C-T PPP3CB c.*949G>A - 3-UTRSNV 14/14 -
11-36103381-A-G LDLRAD3 c.319+53A>G - IntronicSNV - 3/5
7-143088531-C-T EPHA1 c.*19G>A - 3-UTRSNV 18/18 -
19-45382034-A-G NECTIN2 c.*157A>G - 3-UTRSNV 6/6 -
2-169396495-C-T CERS6 c.171-7611C>T - IntronicSNV - 1/9
2-127841769-C-T BIN1 c.85-7487G>A - IntronicSNV - 1/18
1-57025764-C-T PLPP3 c.139+18787G>A - IntronicSNV - 1/5
5-179260528-T-C SQSTM1 c.718-59T>C - IntronicSNV - 7/8
20-31383886-T-C DNMT3B c.1297+386T>C - IntronicSNV - 12/22
15-101045079-G-A CERS3 c.1-3025C>T - IntronicSNV - 3/12
X-38262808-G-A OTC c.541-63G>A - IntronicSNV - 5/9
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
6-52052018-G-A IL17A c.28-383G>A - IntronicSNV - 1/2
19-45726106-T-C EXOC3L2 c.540+1930A>G - IntronicSNV - 6/9
19-11242658-T-C LDLR c.*666T>C - 3-UTRSNV 18/18 -
16-46736263-C-A MYLK3 c.*5353G>T - 3-UTRSNV 13/13 -
16-46736263-C-G MYLK3 c.*5353G>C - 3-UTRSNV 13/13 -
17-42425313-G-A GRN c.1-1220G>A - IntronicSNV - 1/12
2-31803939-T-G SRD5A2 c.278+1751A>C - intron_variant - 2/5
9-6240324-T-C IL33 c.1-1371T>C - IntronicSNV - 1/7
22-46621045-A-G PPARA c.711+5134A>G - IntronicSNV - 6/7
1-11191232-G-A MTOR c.5365-398C>T - IntronicSNV - 38/57
11-77990260-G-A GAB2 c.376+1387C>T - IntronicSNV - 2/9
1-162772985-A-G HSD17B7 c.643-236A>G - IntronicSNV - 5/8
1-56997782-T-C PLPP3 c.297+4845A>G - IntronicSNV - 2/5
19-45324516-C-T BCAM c.*338C>T - 3-UTRSNV 15/15 -
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
13-33610151-T-G KL c.820-17753T>G - IntronicSNV - 1/4
19-51743144-G-C CD33 c.*201G>C - 3-UTRSNV 7/7 -
4-23815924-T-C PPARGC1A c.1182A>G p.Thr394Thr Synonymous 8/13 -
1-101202354-A-G VCAM1 c.2060-1325A>G - IntronicSNV - 8/8
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-A LDLR c.*666T>A - 3-UTRSNV 18/18 -
2-217528816-C-T IGFBP2 c.967C>T p.Arg323Trp Missense 4/4 -
9-114688103-A-G UGCG c.446-561A>G - IntronicSNV - 4/8
10-72604263-G-T SGPL1 c.61G>T p.Val21Leu Missense 3/15 -
16-46692699-G-A VPS35 c.*1685C>T - IntergenicSNV 17/17 -
11-121327859-G-T SORL1 c.285+4534G>T - IntronicSNV - 1/47
9-87409367-G-A NTRK2 c.1397-16090G>A - IntronicSNV - 14/14
11-60050125-A-G MS4A4A c.41+1936A>G - IntronicSNV - 1/5
11-60050125-A-C MS4A4A c.41+1936A>C - IntronicSNV - 1/5
11-36155730-T-C LDLRAD3 c.454+35719T>C - IntronicSNV - 4/5
14-64909151-G-A MTHFD1 c.2136+31G>A - IntronicSNV - 21/27
1-207814451-T-C CR1 c.*1697T>C - 3-UTRSNV 39/39 -
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 -
8-143960597-G-A CYP11B1 c.246C>T p.Asp82Asp Synonymous 2/9 -
10-94229912-C-T IDE c.2208+99G>A - IntronicSNV - 18/24
3-45980673-G-A FYCO1 c.3945-2638C>T - IntronicSNV - 14/17
10-69674347-A-C SIRT1 c.1915+1559A>C - IntronicSNV - 8/8
11-35992770-G-A LDLRAD3 c.46+27076G>A - IntronicSNV - 1/5
10-69674347-A-G SIRT1 c.1915+1559A>G - IntronicSNV - 8/8
10-52099505-G-A SGMS1 c.623+3747C>T - IntronicSNV - 7/10
10-17210822-A-G TRDMT1 c.251+18T>C - IntronicSNV - 3/10
3-133466374-A-G TF c.44-882A>G - IntronicSNV - 1/16
10-88053082-A-T GRID1 c.235+70616T>A - IntronicSNV - 2/15
1-156846233-G-C NTRK1 c.1674G>C p.Gln558His Missense 14/17 -
15-51516055-C-A CYP19A1 c.452-1333G>T - IntronicSNV - 4/9
10-75261465-C-T USP54 c.4312-869G>A - IntronicSNV - 20/21
14-74950964-T-C NPC2 c.363+154A>G - IntronicSNV - 3/4
7-143093307-G-A EPHA1 c.1897+171C>T - IntronicSNV - 11/17
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 -
16-46723079-C-A VPS35 c.1-34G>T - 5-UTRSNV 1/17 -
3-45960646-T-C FYCO1 c.*2611A>G - 3-UTRSNV 18/18 -
10-17210822-A-T TRDMT1 c.251+18T>A - IntronicSNV - 3/10
14-88419358-T-C GALC c.1162-2266A>G - IntronicSNV - 10/16
2-25510276-C-T DNMT3A c.178-4696G>A - IntronicSNV - 3/22
1-11301714-A-G MTOR c.1437T>C p.Asp479Asp Synonymous 10/58 -
5-78421959-G-A BHMT c.716G>A p.Arg239Gln Missense 6/8 -
4-23874981-C-T PPARGC1A c.234+11394G>A - IntronicSNV - 2/12
14-64914537-T-C MTHFD1 c.2179-398T>C - IntronicSNV - 22/27
1-57007539-T-C PLPP3 c.140-4755A>G - IntronicSNV - 1/5
17-42091213-A-T TMEM101 c.318+512T>A - IntronicSNV - 2/3
11-36089700-G-A LDLRAD3 c.194-13503G>A - IntronicSNV - 2/5
18-21120444-T-A NPC1 c.2572A>T p.Ile858Phe Missense 17/25 -
9-114690413-T-C UGCG c.559-1367T>C - IntronicSNV - 5/8
18-21120444-T-C NPC1 c.2572A>G p.Ile858Val Missense 17/25 -
10-73581560-A-T PSAP c.909+73T>A - IntronicSNV - 8/13
1-115878242-T-G NGF c.-137+2583A>C - intron_variant - 1/2
4-23815522-C-A PPARGC1A c.1584G>T p.Thr528Thr Synonymous 8/13 -
2-217514772-G-A IGFBP2 c.443-10508G>A - IntronicSNV - 1/3
10-52331281-C-T SGMS1 c.-589+18632G>A - intron_variant - 2/10
10-52331281-C-G SGMS1 c.-589+18632G>C - intron_variant - 2/10
18-21162288-C-T NPC1 c.57+3963G>A - IntronicSNV - 1/24
22-46567388-A-G PPARA c.-43+19515A>G - intron_variant - 2/7
4-23856492-C-T PPARGC1A c.235-23118G>A - IntronicSNV - 2/12
6-30610042-C-A ATAT1 c.724+18C>A - IntronicSNV - 9/10
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
9-32410850-T-C ACO1 c.404+2201T>C - IntronicSNV - 4/20
16-67475533-C-T ATP6V0D1 c.561+1469G>A - IntronicSNV - 4/7
5-78378410-A-T BHMT2 c.451-222A>T - IntronicSNV - 4/7
11-73716469-A-G UCP3 c.541+306T>C - IntronicSNV - 4/6
8-143994806-A-G CYP11B2 c.1016T>C p.Ile339Thr Missense 6/9 -
10-52160862-A-G SGMS1 c.-232+32374T>C - intron_variant - 6/10
22-19950263-G-A COMT c.214G>A p.Ala72Thr Missense 3/6 -
22-19950263-G-T COMT c.214G>T p.Ala72Ser Missense 3/6 -
1-209882015-C-T HSD11B1 c.517+1542C>T - IntronicSNV - 4/5
4-23825346-A-C PPARGC1A c.877+557T>G - IntronicSNV - 7/12
17-40966080-T-C BECN1 c.980-54A>G - intron_variant - 9/11
11-36514245-C-T TRAF6 c.679-67G>A - IntronicSNV - 6/7
6-30610042-C-T ATAT1 c.724+18C>T - IntronicSNV - 9/10
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-A ATP6V0D1 c.561+1469G>T - IntronicSNV - 4/7
9-87415028-G-T NTRK2 c.1397-10429G>T - IntronicSNV - 14/14
9-87415028-G-C NTRK2 c.1397-10429G>C - IntronicSNV - 14/14
8-143994806-A-T CYP11B2 c.1016T>A p.Ile339Asn Missense 6/9 -
5-54774169-C-T PLPP1 c.214-10192G>A - IntronicSNV - 2/5
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
9-99006889-T-C HSD17B3 c.607-213A>G - IntronicSNV - 8/10
10-108914445-C-G SORCS1 c.558+9282G>C - IntronicSNV - 1/25
10-94387334-T-C KIF11 c.1218-1231T>C - IntronicSNV - 10/21
3-12421238-C-G PPARG c.34C>G p.Pro12Ala Missense 2/7 -
10-94214359-T-A IDE c.2965-63A>T - IntronicSNV - 24/24
16-68428089-T-C SMPD3 c.-268-7527A>G - intron_variant - 1/8
2-25539357-G-A DNMT3A c.1-2504C>T - IntronicSNV - 1/22
13-33599198-A-G KL c.819+7801A>G - IntronicSNV - 1/4
11-85703974-A-C PICALM c.1259-2532T>G - IntronicSNV - 12/19
6-47549629-A-G CD2AP c.1046-110A>G - IntronicSNV - 10/17
4-164245854-A-G NPY1R c.*601T>C - 3-UTRSNV 3/3 -
17-42426940-G-C GRN c.264+21G>C - IntronicSNV - 3/12
6-109769020-T-C MICAL1 c.1944+58A>G - IntronicSNV - 14/24
10-20491011-G-A PLXDC2 c.1062-9587G>A - IntronicSNV - 9/13
10-20491011-G-T PLXDC2 c.1062-9587G>T - IntronicSNV - 9/13
6-109762332-C-T PPIL6 c.1-539G>A - 5-UTRSNV 1/9 -
20-31396152-C-T DNMT3B c.*443C>T - 3-UTRSNV 23/23 -
11-121426207-T-G SORL1 c.2571+180T>G - IntronicSNV - 18/47
11-121426207-T-A SORL1 c.2571+180T>A - IntronicSNV - 18/47
10-94327156-T-C IDE c.98+6523A>G - IntronicSNV - 1/24
3-45960079-C-G FYCO1 c.*3178G>C - 3-UTRSNV 18/18 -
3-45960079-C-A FYCO1 c.*3178G>T - 3-UTRSNV 18/18 -
22-46572744-G-A PPARA c.1-21537G>A - IntronicSNV - 2/7
12-12323618-C-T LRP6 c.1546-5389G>A - IntronicSNV - 7/22
1-101203827-G-A VCAM1 c.2208G>A p.Lys736Lys Synonymous 9/9 -
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
10-17210881-A-G TRDMT1 c.210T>C p.Phe70Phe Synonymous 3/11 -
8-143960167-G-A CYP11B1 c.395+281C>T - IntronicSNV - 2/8
8-143960167-G-C CYP11B1 c.395+281C>G - IntronicSNV - 2/8
10-52265265-C-A SGMS1 c.-498+14326G>T - intron_variant - 3/10
2-169537411-C-T CERS6 c.466-10133C>T - IntronicSNV - 4/9
16-67478976-C-A ATP6V0D1 c.303-367G>T - IntronicSNV - 2/7
3-195804763-C-T TFRC c.1-793G>A - IntronicSNV - 1/18
4-164249485-C-T NPY1R c.1-1779G>A - IntronicSNV - 1/2
5-78381689-A-T BHMT2 c.1010+2010A>T - IntronicSNV - 7/7
18-21134239-C-T NPC1 c.1553+483G>A - IntronicSNV - 9/24
6-47562766-C-T CD2AP c.1109-831C>T - IntronicSNV - 11/17
10-94224165-C-T IDE c.2489-405G>A - IntronicSNV - 20/24
3-46009684-G-A FYCO1 c.1142C>T p.Thr381Met Missense 8/18 -
2-127816424-A-G BIN1 c.1002+163T>C - IntronicSNV - 11/18
1-206947167-C-T IL19 c.-35+2744C>T - intron_variant - 1/6
12-12323618-C-G LRP6 c.1546-5389G>C - IntronicSNV - 7/22
19-572596-A-C BSG c.1-39A>C - 5-UTRSNV 1/9 -
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
4-164250797-A-G NPY1R c.-152+2837T>C - intron_variant - 1/2
11-224393-A-G SIRT3 c.382-154T>C - IntronicSNV - 4/6
11-36218947-C-T LDLRAD3 c.455-29688C>T - IntronicSNV - 4/5
2-149408239-A-T EPC2 c.153+5500A>T - IntronicSNV - 1/13
2-149408239-A-G EPC2 c.153+5500A>G - IntronicSNV - 1/13
11-121501755-G-A SORL1 c.*1483G>A - 3-UTRSNV 48/48 -
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
1-115874931-A-G NGF c.-137+5894T>C - intron_variant - 1/2
11-59947252-C-T MS4A6A c.366+52G>A - IntronicSNV - 4/6
5-78381689-A-C BHMT2 c.1010+2010A>C - IntronicSNV - 7/7
6-32009354-T-C CYP21A2 c.*443T>C - 3-UTRSNV 10/10 -
6-30611676-C-A ATAT1 c.*337C>A - 3-UTRSNV 11/11 -
14-64895154-G-T MTHFD1 c.1264+963G>T - IntronicSNV - 12/27
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
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
11-85729372-A-T PICALM c.453-3366T>A - IntronicSNV - 4/19
19-1052005-C-A ABCA7 c.3027C>A p.Ala1009Ala Synonymous 22/47 -
19-1052005-C-T ABCA7 c.3027C>T p.Ala1009Ala Synonymous 22/47 -
19-10256910-C-A DNMT1 c.2846+117G>T - IntronicSNV - 27/39
11-85729372-A-G PICALM c.453-3366T>C - IntronicSNV - 4/19
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
16-68479656-C-G SMPD3 c.-269+2600G>C - intron_variant - 1/8
17-7286326-T-A TNK1 c.81T>A p.Leu27Leu Synonymous 2/13 -
20-33141272-T-G MAP1LC3A c.52+3439T>G - IntronicSNV - 2/4
13-33628989-A-G KL c.1331-195A>G - IntronicSNV - 2/4
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
13-33629393-C-T KL c.1540C>T p.Pro514Ser Missense 3/5 -
11-85772636-G-A PICALM c.130+7057C>T - IntronicSNV - 1/19
8-143961005-T-A CYP11B1 c.225A>T p.Leu75Leu Synonymous 1/9 -
8-27454575-C-T CLU c.*1183G>A - 3-UTRSNV 9/9 -
8-143961005-T-C CYP11B1 c.225A>G p.Leu75Leu Synonymous 1/9 -
10-52005293-G-A ASAH2 c.128-79C>T - IntronicSNV - 1/19
3-12456834-A-T PPARG c.736-1369A>T - IntronicSNV - 5/6
3-46007823-G-T FYCO1 c.3003C>A p.Asn1001Lys Missense 8/18 -
X-91496587-A-G PCDH11X c.3114+40133A>G - IntronicSNV - 3/5
12-14031100-C-T GRIN2B c.1-11958G>A - IntronicSNV - 1/12
19-49935536-G-C SLC17A7 c.1150+240C>G - IntronicSNV - 9/11
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
17-7290695-A-G TNK1 c.1398-2A>G - IntronicSNV - 9/12
7-24325495-G-C NPY c.188+448G>C - IntronicSNV - 2/3
9-99013616-C-T HSD17B3 c.453+84G>A - IntronicSNV - 5/10
9-99013616-C-G HSD17B3 c.453+84G>C - IntronicSNV - 5/10
20-33142873-G-A MAP1LC3A c.53-4139G>A - IntronicSNV - 2/4
3-45962752-T-C FYCO1 c.*505A>G - 3-UTRSNV 18/18 -
3-45962752-T-A FYCO1 c.*505A>T - 3-UTRSNV 18/18 -
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 -
19-18984843-G-A GDF1 c.1-3727C>T - IntronicSNV - 6/7
13-33617174-T-G KL c.820-10730T>G - IntronicSNV - 1/4
11-85681389-A-G PICALM c.1944+4362T>C - IntronicSNV - 19/19
11-36522260-T-C TRAF6 c.296+510A>G - IntronicSNV - 3/7
6-134213181-C-T TCF21 c.*241C>T - IntronicSNV 3/3 -
11-36522260-T-G TRAF6 c.296+510A>C - IntronicSNV - 3/7
11-73717074-G-A UCP3 c.338-96C>T - IntronicSNV - 3/6
1-209894661-G-A HSD11B1 c.518-11120G>A - IntronicSNV - 4/5
11-221584-C-T SIRT3 c.543+2494G>A - IntronicSNV - 5/6
19-18988218-C-T GDF1 c.-313+1521G>A - intron_variant - 6/7
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 -
3-46000037-C-A FYCO1 c.3662G>T p.Arg1221Leu Missense 13/18 -
6-32006337-C-T CYP21A2 c.138C>T p.Pro46Pro Synonymous 1/10 -
1-156818647-T-A INSRR c.1571+66A>T - IntronicSNV - 7/21
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
3-46000037-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
10-75251319-T-C PPP3CB c.85+4244A>G - IntronicSNV - 1/13
10-75251319-T-A PPP3CB c.85+4244A>T - IntronicSNV - 1/13
11-85688209-A-C PICALM c.1780-484T>G - IntronicSNV - 17/19
10-88068120-A-G GRID1 c.235+55578T>C - IntronicSNV - 2/15
2-25463483-G-A DNMT3A c.2173+26C>T - IntronicSNV - 18/22
20-31393803-T-C DNMT3B c.2302-212T>C - IntronicSNV - 21/22
15-58824641-A-G LIPC c.89-5891A>G - IntronicSNV - 1/8
11-36117340-G-A LDLRAD3 c.320-2537G>A - IntronicSNV - 3/5
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-T GRIN2A c.415-9415G>A - IntronicSNV - 3/13
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
19-49120434-C-T RPL18 c.198+139G>A - IntronicSNV - 3/6
19-1057137-G-A ABCA7 c.4764+54G>A - IntronicSNV - 34/46
10-94319992-G-A IDE c.98+13687C>T - IntronicSNV - 1/24
19-45728059-T-C EXOC3L2 c.517A>G p.Asn173Asp Missense 6/10 -
X-91439067-C-T PCDH11X c.3034-17307C>T - IntronicSNV - 2/5
14-100133942-T-C HHIPL1 c.1649-617T>C - IntronicSNV - 6/8
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 -
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -
9-32427406-G-A ACO1 c.1456G>A p.Gly486Arg Missense 12/21 -
6-28264681-G-A PGBD1 c.731G>A p.Gly244Glu Missense 5/7 -
20-31393803-T-A DNMT3B c.2302-212T>A - IntronicSNV - 21/22
13-110960712-A-G COL4A2 c.99+242A>G - IntronicSNV - 3/47
11-36117340-G-C LDLRAD3 c.320-2537G>C - IntronicSNV - 3/5
11-36117340-G-T LDLRAD3 c.320-2537G>T - IntronicSNV - 3/5
15-101077556-A-G CERS3 c.-355+7300T>C - intron_variant - 1/12
16-10041823-C-A GRIN2A c.415-9415G>T - IntronicSNV - 3/13
10-73597352-C-T PSAP c.41-3090G>A - IntronicSNV - 1/13
17-42427732-G-A GRN c.462+24G>A - IntronicSNV - 5/12
10-94331341-G-A IDE c.98+2338C>T - IntronicSNV - 1/24
10-73605926-G-A PSAP c.40+5013C>T - IntronicSNV - 1/13
20-31386347-T-A DNMT3B c.1572T>A p.Cys524* Nonsense 15/23 -
X-38267775-G-A OTC c.664-220G>A - IntronicSNV - 6/9
1-156848918-C-T NTRK1 c.1810C>T p.His604Tyr Missense 15/17 -
10-94368588-T-C KIF11 c.388-189T>C - IntronicSNV - 4/21
2-25469913-C-T DNMT3A c.1122+7G>A - IntronicSNV - 9/22
11-27677041-C-G BDNF c.*2326G>C - 3_prime_UTR_variant 1/1 -
11-78169785-C-T NARS2 c.1164+7137G>A - IntronicSNV - 11/13
6-30601232-A-G ATAT1 c.537+5025A>G - IntronicSNV - 6/10
19-11242133-G-A LDLR c.*141G>A - 3-UTRSNV 18/18 -
10-20534333-A-T PLXDC2 c.1372A>T p.Ile458Phe Missense 13/14 -
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
2-169546569-T-G CERS6 c.466-975T>G - IntronicSNV - 4/9
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 -
4-23834876-C-A PPARGC1A c.235-1502G>T - IntronicSNV - 2/12
10-52104556-C-T SGMS1 c.1-682G>A - IntronicSNV 2/11 -
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
9-90145115-A-G DAPK1 c.62+31061A>G - IntronicSNV - 2/25
9-114668639-C-A UGCG c.99-8246C>A - IntronicSNV - 1/8
3-12470239-A-C PPARG c.1187-5158A>C - IntronicSNV - 6/6
20-31391898-C-T DNMT3B c.2232-1246C>T - IntronicSNV - 20/22
19-1048116-G-A ABCA7 c.2269+463G>A - IntronicSNV - 16/46
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 -
12-57535266-C-T LRP1 c.300C>T p.Asp100Asp Synonymous 3/89 -
12-13773428-A-T GRIN2B c.1126-3837T>A - IntronicSNV - 4/12
12-57535266-C-A LRP1 c.300C>A p.Asp100Glu Missense 3/89 -
22-46636007-G-A PPARA c.*4730G>A - 3-UTRSNV 8/8 -
11-121328954-T-C SORL1 c.285+5629T>C - IntronicSNV - 1/47
11-77941076-T-C GAB2 c.621-2979A>G - IntronicSNV - 3/9
19-9939831-A-G UBL5 c.178+281A>G - IntronicSNV - 4/4
2-25548550-G-A DNMT3A c.1-11697C>T - IntronicSNV - 1/22
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 -
19-10332988-C-G S1PR2 c.*1532G>C - 3-UTRSNV 2/2 -
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
17-42018541-T-C PPY c.233A>G p.Glu78Gly Missense 3/4 -
12-13739553-T-A GRIN2B c.2011-14655A>T - IntronicSNV - 9/12
12-13739553-T-C GRIN2B c.2011-14655A>G - IntronicSNV - 9/12
6-109762600-A-C SMPD2 c.91A>C p.Arg31Arg Synonymous 2/10 -
1-11181985-G-A MTOR c.6810+51C>T - IntronicSNV - 48/57
2-68446669-C-T PPP3R1 c.4-2406G>A - IntronicSNV - 1/5
3-133484188-C-T TF c.1330+437C>T - IntronicSNV - 11/16
19-10254234-C-T DNMT1 c.3068+208G>A - IntronicSNV - 28/39
19-45351746-A-G NECTIN2 c.88+1876A>G - IntronicSNV - 1/5
18-21152907-G-C NPC1 c.180+509C>G - IntronicSNV - 2/24
19-1038222-C-T CNN2 c.*323C>T - 3-UTRSNV 7/7 -
12-57585144-C-T LRP1 c.7278C>T p.Ala2426Ala Synonymous 44/89 -
3-45960700-C-T FYCO1 c.*2557G>A - 3-UTRSNV 18/18 -
2-25489132-C-T DNMT3A c.639+8678G>A - IntronicSNV - 6/22
X-38274719-T-C OTC c.1005+3467T>C - IntronicSNV - 9/9
2-25465720-T-C DNMT3A c.1936+1047A>G - IntronicSNV - 16/22
22-42206084-G-C CCDC134 c.225+80G>C - IntronicSNV - 3/6
16-46697098-A-T VPS35 c.1648-24T>A - IntronicSNV - 13/16
17-7288228-C-T TNK1 c.1137+155C>T - IntronicSNV - 7/12
17-7292726-C-T TNK1 c.*323C>T - 3-UTRSNV 13/13 -
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
2-127841930-C-T BIN1 c.85-7648G>A - IntronicSNV - 1/18
19-11227326-C-A LDLR c.1706-209C>A - IntronicSNV - 11/17
22-46570232-A-G PPARA c.-43+22359A>G - intron_variant - 2/7
19-11163601-G-T SMARCA4 c.4425-5330G>T - IntronicSNV - 30/34
7-22767871-T-C IL6 c.211-441T>C - IntronicSNV - 2/4
6-52055335-C-T IL17A c.*1245C>T - 3-UTRSNV 3/3 -
12-57604802-A-G LRP1 c.12916+140A>G - IntronicSNV - 83/88
5-6669762-T-C SRD5A1 c.*1381T>C - IntergenicSNV 5/5 -
10-20440252-C-A PLXDC2 c.783+3421C>A - IntronicSNV - 6/13
2-27499037-A-G DNAJC5G c.-222A>G - 5_prime_UTR_variant 2/7 -
11-36146708-G-A LDLRAD3 c.454+26697G>A - IntronicSNV - 4/5
19-10340912-A-G S1PR2 c.-43+968T>C - intron_variant - 1/1
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
10-69649220-A-G SIRT1 c.789+339A>G - IntronicSNV - 3/8
6-109767930-G-A MICAL1 c.2273C>T p.Ala758Val Missense 18/25 -
17-42041273-T-C PYY c.-218+2383A>G - intron_variant - 2/6
4-164249485-C-A NPY1R c.1-1779G>T - IntronicSNV - 1/2
22-46614170-G-T PPARA c.380G>T p.Arg127Leu Missense 5/8 -
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
3-45996843-T-C FYCO1 c.3842A>G p.Asp1281Gly Missense 14/18 -
19-10332988-C-A S1PR2 c.*1532G>T - 3-UTRSNV 2/2 -
21-45668171-G-T DNMT3L c.995+738C>A - IntronicSNV - 11/11
2-223388169-T-C SGPP2 c.559-1494T>C - IntronicSNV - 3/4
18-29088958-C-T DSG2 c.46-9244C>T - IntronicSNV - 1/14
11-78001248-C-T GAB2 c.76-9301G>A - IntronicSNV - 1/9
19-11227326-C-G LDLR c.1706-209C>G - IntronicSNV - 11/17
11-59948374-C-G MS4A6A c.231+680G>C - IntronicSNV - 3/6
6-160961137-T-C LPA c.5673A>G p.Ile1891Met Missense 36/39 -
19-8285607-G-A CERS4 c.-2+9861G>A - intron_variant - 2/11
10-20440252-C-T PLXDC2 c.783+3421C>T - IntronicSNV - 6/13
6-30596496-T-C ATAT1 c.537+289T>C - IntronicSNV - 6/10
16-46694103-G-T VPS35 c.*281C>A - 3-UTRSNV 17/17 -
17-42085150-T-C NAGS c.1451+9T>C - IntronicSNV - 6/6
7-143093824-G-T EPHA1 c.1772-221C>A - IntronicSNV - 10/17
16-68411283-C-T SMPD3 c.1-5199G>A - IntronicSNV - 1/8
11-121393226-C-T SORL1 c.1405-69C>T - IntronicSNV - 9/47
12-13959441-C-T GRIN2B c.412-52592G>A - IntronicSNV - 2/12
10-72631204-A-G SGPL1 c.909+301A>G - IntronicSNV - 10/14
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 -
20-23618427-C-T CST3 c.73G>A p.Ala25Thr Missense 1/3 -
19-10332988-C-T S1PR2 c.*1532G>A - 3-UTRSNV 2/2 -
15-74630623-T-C CYP11A1 c.1435-179A>G - IntronicSNV - 8/8
19-9946917-A-G PIN1 c.58+839A>G - 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 -
16-67469733-C-G HSD11B2 c.468C>G p.Thr156Thr Synonymous 2/5 -
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
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-G AKR1C3 c.369+73C>G - IntronicSNV - 3/8
10-5139815-C-T AKR1C3 c.369+73C>T - IntronicSNV - 3/8
10-5139815-C-A AKR1C3 c.369+73C>A - IntronicSNV - 3/8
19-45404431-T-C TOMM40 c.844-34T>C - IntronicSNV - 8/9
16-68414116-A-G SMPD3 c.1-8032T>C - IntronicSNV - 1/8
2-127851697-A-G BIN1 c.84+12739T>C - IntronicSNV - 1/18
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 -
10-52093995-C-T SGMS1 c.624-6913G>A - IntronicSNV - 7/10
18-21133937-G-A NPC1 c.1553+785C>T - IntronicSNV - 9/24
19-45716197-A-G EXOC3L2 c.*130T>C - 3-UTRSNV 10/10 -
22-46581385-C-T PPARA c.1-12896C>T - IntronicSNV - 2/7
6-109764535-G-A SMPD2 c.795G>A p.Arg265Arg Synonymous 9/10 -
6-109764535-G-T SMPD2 c.795G>T p.Arg265Ser Missense 9/10 -
4-23866016-C-A PPARGC1A c.234+20359G>T - IntronicSNV - 2/12
14-64888055-C-T MTHFD1 c.727+1412C>T - IntronicSNV - 8/27
2-223317212-G-A SGPP2 c.220-22075G>A - IntronicSNV - 1/4
2-31767131-A-G SRD5A2 c.279-8295T>C - intron_variant - 2/5
6-26091179-C-G HFE c.187C>G p.His63Asp Missense 2/6 -
10-72602891-T-C SGPL1 c.28-1339T>C - IntronicSNV - 2/14
3-133484712-G-A TF c.1331-410G>A - IntronicSNV - 11/16
11-85683554-G-A PICALM c.1944+2197C>T - IntronicSNV - 19/19
3-133484712-G-T TF c.1331-410G>T - IntronicSNV - 11/16
5-179260153-C-T SQSTM1 c.624C>T p.Asp208Asp Synonymous 7/9 -
11-85686096-T-G PICALM c.1840-241A>C - IntronicSNV - 18/19
10-94214580-A-G IDE c.2965-284T>C - IntronicSNV - 24/24
10-94214580-A-C IDE c.2965-284T>G - IntronicSNV - 24/24
10-104594507-A-G CYP17A1 c.666+35T>C - IntronicSNV - 3/7
11-121415312-C-T SORL1 c.1865-640C>T - IntronicSNV - 13/47
10-52006771-G-C ASAH2 c.127+1473C>G - IntronicSNV - 1/19
5-54750483-T-C PLPP1 c.495-12747A>G - IntronicSNV - 3/5
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-A PLPP1 c.59-3617G>T - IntronicSNV - 1/5
10-5141609-C-T AKR1C3 c.538C>T p.Pro180Ser Missense 5/9 -
4-156130948-C-T NPY2R c.-49+727C>T - intron_variant - 1/1
17-42045138-G-A PYY c.-462-1238C>T - intron_variant - 1/6
16-68414975-C-G SMPD3 c.-207+5526G>C - intron_variant - 2/8
1-120054775-A-G HSD3B1 c.310+485A>G - IntronicSNV - 3/3
1-11855072-T-C MTHFR c.1031+83A>G - IntronicSNV - 6/11
4-23821523-C-T PPARGC1A c.877+4380G>A - IntronicSNV - 7/12
14-88429304-C-T GALC c.1161+424G>A - IntronicSNV - 10/16
19-51739767-A-C CD33 c.924+836A>C - IntronicSNV - 6/6
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
16-46696917-A-T VPS35 c.1805T>A p.Val602Asp Missense 14/17 -
5-7870973-A-G MTRR c.66A>G p.Ile22Met Missense 2/15 -
17-46988597-C-T UBE2Z c.390+355C>T - IntronicSNV - 2/6
10-52086939-C-G SGMS1 c.741+26G>C - IntronicSNV - 8/10
5-54790559-C-T PLPP1 c.59-3617G>A - IntronicSNV - 1/5
7-143095153-C-T EPHA1 c.1475G>A p.Arg492Gln Missense 8/18 -
10-5141609-C-G AKR1C3 c.538C>G p.Pro180Ala Missense 5/9 -
16-68414975-C-T SMPD3 c.-207+5526G>A - intron_variant - 2/8
17-61558229-A-G ACE c.848-223A>G - IntronicSNV - 5/24
19-10396336-C-T ICAM1 c.*373C>T - 3-UTRSNV 7/7 -
19-10370133-G-A MRPL4 c.740-160G>A - IntronicSNV - 8/8
10-52267394-T-C SGMS1 c.-498+12197A>G - intron_variant - 3/10
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
11-60072784-G-A MS4A4A c.388-789G>A - IntronicSNV - 4/5
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
18-21124945-C-A NPC1 c.1926G>T p.Met642Ile Missense 12/25 -
6-28269663-A-G PGBD1 c.2032A>G p.Ile678Val Missense 7/7 -
10-5144037-T-G AKR1C3 c.571-256T>G - IntronicSNV - 5/8
10-5144037-T-A AKR1C3 c.571-256T>A - IntronicSNV - 5/8
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
18-21124945-C-G NPC1 c.1926G>C p.Met642Ile Missense 12/25 -
15-78789488-C-T IREB2 c.2616C>T p.Ala872Ala Synonymous 21/22 -
6-26091185-A-T HFE c.193A>T p.Ser65Cys Missense 2/6 -
3-12400963-A-G PPARG c.1-20242A>G - IntronicSNV - 1/6
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
10-94353278-G-T KIF11 c.77+69G>T - IntronicSNV - 1/21
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
19-1068738-G-A ARHGAP45 c.464G>A p.Arg155His Missense 2/23 -
X-91579524-A-G PCDH11X c.3115-63210A>G - IntronicSNV - 3/5
6-12927544-C-G PHACTR1 c.251-126053C>G - IntronicSNV - 4/14
16-46728952-A-C ORC6 c.450-522A>C - IntronicSNV - 4/6
19-1068738-G-C ARHGAP45 c.464G>C p.Arg155Pro Missense 2/23 -
15-74635368-C-T CYP11A1 c.940G>A p.Glu314Lys Missense 5/9 -
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
10-17188184-A-C TRDMT1 c.*2855T>G - 3-UTRSNV 11/11 -
14-64889656-G-A MTHFD1 c.728-1866G>A - IntronicSNV - 8/27
8-143994041-C-T CYP11B2 c.1303G>A p.Gly435Ser Missense 8/9 -
3-45983654-G-A FYCO1 c.3945-5619C>T - IntronicSNV - 14/17
17-42423263-C-T GRN c.-8+561C>T - intron_variant - 1/12
X-38265777-C-T OTC c.664-2218C>T - IntronicSNV - 6/9
1-156818647-T-C INSRR c.1571+66A>G - IntronicSNV - 7/21
19-10273372-T-A DNMT1 c.931A>T p.Ile311Phe Missense 12/40 -
4-23815793-A-G PPARGC1A c.1313T>C p.Leu438Ser Missense 8/13 -
11-78172115-G-C NARS2 c.1164+4807C>G - IntronicSNV - 11/13
11-35983221-T-C LDLRAD3 c.46+17527T>C - IntronicSNV - 1/5
2-31779404-T-A SRD5A2 c.279-20568A>T - intron_variant - 2/5
2-169533692-C-T CERS6 c.466-13852C>T - IntronicSNV - 4/9
17-74383040-T-C SPHK1 c.570T>C p.Asp190Asp Synonymous 6/6 -
11-36206672-C-T LDLRAD3 c.455-41963C>T - 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
4-23862933-A-C PPARGC1A c.234+23442T>G - IntronicSNV - 2/12
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 -
10-52315912-C-T SGMS1 c.-589+34001G>A - intron_variant - 2/10
16-46703283-G-A VPS35 c.1525-319C>T - IntronicSNV - 12/16
15-101003121-G-A CERS3 c.845+6462C>T - IntronicSNV - 11/12
3-133467696-C-T TF c.216+268C>T - IntronicSNV - 2/16
17-74383678-G-A SPHK1 c.*11G>A - 3-UTRSNV 6/6 -
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-A CERS6 c.466-13852C>A - IntronicSNV - 4/9
2-169533692-C-G CERS6 c.466-13852C>G - IntronicSNV - 4/9
11-36206672-C-A LDLRAD3 c.455-41963C>A - IntronicSNV - 4/5
4-23862933-A-T PPARGC1A c.234+23442T>A - IntronicSNV - 2/12
19-1038222-C-G CNN2 c.*323C>G - 3-UTRSNV 7/7 -
14-74957153-T-C NPC2 c.82+2743A>G - IntronicSNV - 1/4
10-75260183-T-C USP54 c.4495+230A>G - IntronicSNV - 21/21
8-143995761-C-T CYP11B2 c.873G>A p.Ala291Ala Synonymous 5/9 -
12-13941877-A-C GRIN2B c.412-35028T>G - IntronicSNV - 2/12
X-91494654-A-G PCDH11X c.3114+38200A>G - IntronicSNV - 3/5
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 -
11-78172115-G-A NARS2 c.1164+4807C>T - IntronicSNV - 11/13
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
6-109770999-G-T MICAL1 c.1308-13C>A - IntronicSNV - 9/24
11-121489416-G-A SORL1 c.5605-67G>A - IntronicSNV - 41/47
6-47452270-T-C CD2AP c.4+6286T>C - IntronicSNV - 1/17
2-68411414-G-A PPP3R1 c.465+2186C>T - IntronicSNV - 5/5
19-9958878-A-G PIN1 c.382+62A>G - IntronicSNV - 3/3
19-9958878-A-C PIN1 c.382+62A>C - 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
16-67469969-G-A HSD11B2 c.588G>A p.Ala196Ala Synonymous 3/5 -
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 -
5-179260009-G-A SQSTM1 c.503-23G>A - IntronicSNV - 6/8
19-10398206-C-T ICAM4 c.395-6C>T - IntronicSNV - 1/2
17-40967982-C-A BECN1 c.774G>T p.Gln258His Missense 8/12 -
10-73596364-A-G PSAP c.41-2102T>C - IntronicSNV - 1/13
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
22-46584984-A-G PPARA c.1-9297A>G - IntronicSNV - 2/7
11-233067-C-T SIRT3 c.196G>A p.Val66Ile Missense 3/7 -
17-42437682-C-T FAM171A2 c.119-182G>A - IntronicSNV - 1/7
6-30608273-A-C ATAT1 c.584-39A>C - IntronicSNV - 7/10
6-30608273-A-G ATAT1 c.584-39A>G - IntronicSNV - 7/10
10-108389111-A-G SORCS1 c.2511T>C p.Phe837Phe Synonymous 19/26 -
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
5-179264731-T-C SQSTM1 c.*1138T>C - 3-UTRSNV 9/9 -
5-179264731-T-A SQSTM1 c.*1138T>A - 3-UTRSNV 9/9 -
10-17211383-T-A TRDMT1 c.175-467A>T - IntronicSNV - 2/10
22-42190309-A-G MEI1 c.3428-66A>G - IntronicSNV - 27/30
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
15-101064527-C-T CERS3 c.-91-2566G>A - intron_variant - 2/12
13-33594156-A-G KL c.819+2759A>G - IntronicSNV - 1/4
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
16-87437107-G-A MAP1LC3B c.*404G>A - 3-UTRSNV 4/4 -
11-121389502-T-G SORL1 c.1212-1864T>G - IntronicSNV - 8/47
6-52054249-G-A IL17A c.*159G>A - 3-UTRSNV 3/3 -
15-51570853-G-A CYP19A1 c.1-35744C>T - IntronicSNV - 1/9
2-31788989-G-A SRD5A2 c.278+16701C>T - intron_variant - 2/5
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 -
5-6643847-G-C SRD5A1 c.294-8108G>C - IntronicSNV - 1/4
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
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 -
19-45322744-A-G BCAM c.1615A>G p.Thr539Ala Missense 12/15 -
17-42065925-A-G PYY c.-463+15834T>C - intron_variant - 1/6
17-42030409-G-A PYY c.270-61C>T - IntronicSNV - 6/6
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 -
10-94354204-T-C KIF11 c.77+995T>C - IntronicSNV - 1/21
10-94354204-T-G KIF11 c.77+995T>G - IntronicSNV - 1/21
17-61557823-G-T ACE c.781G>T p.Ala261Ser Missense 5/25 -
19-33699031-C-T LRP3 c.*550C>T - 3-UTRSNV 7/7 -
4-23802836-A-G PPARGC1A c.2293+517T>C - IntronicSNV - 12/12
3-133475563-G-T TF c.692-112G>T - IntronicSNV - 6/16
12-51411353-G-T SLC11A2 c.1-6842C>A - IntronicSNV - 1/15
3-46003736-G-A FYCO1 c.3418C>T p.Arg1140Trp Missense 11/18 -
2-234068476-C-T INPP5D c.1056+1411C>T - intron_variant - 11/27
15-74637867-A-T CYP11A1 c.426-283T>A - IntronicSNV - 2/8
13-33635939-T-A KL c.2701+22T>A - IntronicSNV - 4/4
12-57591226-T-C LRP1 c.9162+59T>C - IntronicSNV - 57/88
12-57591226-T-A LRP1 c.9162+59T>A - IntronicSNV - 57/88
17-61556554-G-C ACE c.511+93G>C - IntronicSNV - 3/24
3-133474003-C-G TF c.503-204C>G - IntronicSNV - 4/16
17-40963904-G-A BECN1 c.1041-89C>T - intron_variant - 10/11
6-151207078-G-A MTHFD1L c.643+208G>A - IntronicSNV - 6/27
8-17936029-G-A ASAH1 c.127-2933C>T - IntronicSNV - 1/13
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
15-51502844-A-C CYP19A1 c.*161T>G - 3-UTRSNV 10/10 -
11-36182280-T-C LDLRAD3 c.454+62269T>C - IntronicSNV - 4/5
1-53732138-C-T LRP8 c.1427+7G>A - IntronicSNV - 9/18
1-11205058-C-T MTOR c.4731G>A p.Ala1577Ala Synonymous 33/58 -
18-21118528-G-C NPC1 c.3019C>G p.Pro1007Ala Missense 20/25 -
10-17201247-A-G TRDMT1 c.460-19T>C - IntronicSNV - 6/10
20-44534651-G-A PLTP c.705+256C>T - IntronicSNV - 8/15
2-217507926-A-T IGFBP2 c.442+9238A>T - IntronicSNV - 1/3
2-217507926-A-G IGFBP2 c.442+9238A>G - IntronicSNV - 1/3
10-52104565-G-A SGMS1 c.1-691C>T - IntronicSNV - 3/10
7-99703958-T-C AP4M1 c.1025+44T>C - IntronicSNV - 13/14
17-61557823-G-A ACE c.781G>A p.Ala261Thr Missense 5/25 -
10-17216419-T-C TRDMT1 c.174+131A>G - IntronicSNV - 2/10
7-99703958-T-G AP4M1 c.1025+44T>G - IntronicSNV - 13/14
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
11-27680107-G-T BDNF c.5C>A p.Thr2Asn Missense 1/1 -
2-25458546-C-T DNMT3A c.2597+30G>A - IntronicSNV - 22/22
2-169418646-C-G CERS6 c.407+814C>G - IntronicSNV - 3/9
19-281360-C-T PLPP2 c.*28G>A - 3-UTRSNV 6/6 -
14-92926952-G-T SLC24A4 c.1255+4000G>T - IntronicSNV - 12/16
10-72646337-C-T PCBD1 c.4-651G>A - IntronicSNV - 1/3
13-33628193-G-C KL c.1109G>C p.Cys370Ser Missense 2/5 -
3-148896541-A-G CP c.2662-123T>C - IntronicSNV - 15/18
6-109770999-G-C MICAL1 c.1308-13C>G - IntronicSNV - 9/24
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
10-17210822-A-C TRDMT1 c.251+18T>G - IntronicSNV - 3/10