PMID: 21347282

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

PLoS genetics
G Lettre, CD Palmer, T Young, KG Ejebe, H Allayee, EJ Benjamin, F Bennett, DW Bowden, A Chakravarti, A Dreisbach, DN Farlow, AR Folsom, M Fornage, T Forrester, E Fox, CA Haiman, J Hartiala, TB Harris, SL Hazen, SR Heckbert, BE Henderson, JN Hirschhorn, BJ Keating, SB Kritchevsky, E Larkin, M Li, ME Rudock, CA McKenzie, JB Meigs, YA Meng, TH Mosley, AB Newman, CH Newton-Cheh, DN Paltoo, GJ Papanicolaou, N Patterson, WS Post, BM Psaty, AN Qasim, L Qu, DJ Rader, S Redline, MP Reilly, AP Reiner, SS Rich, JI Rotter, Y Liu, P Shrader, DS Siscovick, WH Tang, HA Taylor, RP Tracy, RS Vasan, KM Waters, R Wilks, JG Wilson, RR Fabsitz, SB Gabriel, S Kathiresan, E Boerwinkle
2011-02-10

296 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-27796242-G-C TAX1BP1 c.163-1408G>C - IntronicSNV - 2/16
7-27796242-G-A TAX1BP1 c.163-1408G>A - IntronicSNV - 2/16
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
9-107593182-A-T ABCA1 c.1892+24T>A - IntronicSNV - 14/49
11-107701026-T-A SLC35F2 c.111-14335A>T - IntronicSNV - 1/7
11-107701026-T-C SLC35F2 c.111-14335A>G - IntronicSNV - 1/7
8-40427541-G-T ZMAT4 c.674+11143C>A - IntronicSNV - 6/6
21-41123301-T-C IGSF5 c.100+5076T>C - IntronicSNV - 2/8
20-44511627-C-T ZSWIM1 c.396C>T p.Phe132Phe Synonymous 2/2 -
3-65846594-C-T MAGI1 c.313+177077G>A - IntronicSNV - 1/22
16-57006590-C-T CETP c.750+595C>T - IntronicSNV - 8/15
16-83212398-G-T CDH13 c.484-38552G>T - IntronicSNV - 4/13
16-67699948-T-C ENKD1 c.280+26A>G - IntronicSNV - 2/6
11-63853044-C-T MACROD1 c.517+65667G>A - IntronicSNV - 3/10
11-107693120-A-G SLC35F2 c.111-6429T>C - IntronicSNV - 1/7
2-164564768-C-A FIGN c.25+26645G>T - IntronicSNV - 2/2
16-57006590-C-G CETP c.750+595C>G - IntronicSNV - 8/15
1-183184068-T-G LAMC2 c.269-520T>G - IntronicSNV - 2/22
5-122453652-A-G PRDM6 c.900+17996A>G - IntronicSNV - 3/7
6-161082461-T-C LPA c.49+2737A>G - IntronicSNV - 1/38
1-201474400-G-C CSRP1 c.-2+1798C>G - intron_variant - 1/5
1-201474400-G-A CSRP1 c.-2+1798C>T - intron_variant - 1/5
6-12892456-A-G PHACTR1 c.250+142434A>G - IntronicSNV - 4/14
1-55593546-A-T USP24 c.3635+1604T>A - IntronicSNV - 32/67
5-173422382-C-T C5orf47 c.326-2774C>T - IntronicSNV - 1/4
19-45403412-C-T TOMM40 c.644-575C>T - IntronicSNV - 6/9
16-83212398-G-A CDH13 c.484-38552G>A - IntronicSNV - 4/13
1-240445596-T-C FMN2 c.4154-12526T>C - IntronicSNV - 7/17
1-156876877-G-A PEAR1 c.644+205G>A - IntronicSNV - 6/22
10-18708798-A-T CACNB2 c.168+17826A>T - IntronicSNV - 2/12
15-57909186-T-C GCOM1 c.163-1045T>C - IntronicSNV - 2/13
13-53244387-A-G SUGT1 c.723+3333A>G - IntronicSNV - 11/13
14-61889298-C-T PRKCH c.428-20531C>T - IntronicSNV - 2/13
20-40754417-T-C PTPRT c.2847+2977A>G - IntronicSNV - 19/30
6-161161559-C-A PLG c.2019-784C>A - IntronicSNV - 16/18
19-56341955-T-A NLRP11 c.-63+1374A>T - intron_variant - 3/11
11-93255483-T-C SMCO4 c.-154+20959A>G - intron_variant - 1/2
19-45373739-A-G NECTIN2 c.479-1371A>G - IntronicSNV - 2/5
9-107593182-A-C ABCA1 c.1892+24T>G - IntronicSNV - 14/49
1-109817192-A-G CELSR2 c.*521A>G - 3-UTRSNV 34/34 -
14-69435983-A-G ACTN1 c.105+9686T>C - IntronicSNV - 1/20
16-67993919-A-C SLC12A4 c.342+1559T>G - IntronicSNV - 3/23
6-161152240-G-A PLG c.1414G>A p.Asp472Asn Missense 11/19 -
19-56331249-T-C NLRP11 c.1-1709A>G - IntronicSNV - 3/11
2-139447600-C-G NXPH2 c.52-18365G>C - IntronicSNV - 1/1
8-4162862-G-A CSMD1 c.415+114613C>T - IntronicSNV - 3/69
8-10657726-G-C PINX1 c.471+19977C>G - IntronicSNV - 6/6
2-226290705-C-A NYAP2 c.221+16888C>A - IntronicSNV - 2/5
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
17-38064405-C-T GSDMB c.661+806G>A - IntronicSNV - 4/7
2-191996518-T-A STAT4 c.273+14821A>T - IntronicSNV - 3/23
7-100462294-G-A SLC12A9 c.1859-1047G>A - IntronicSNV - 13/13
2-191996518-T-C STAT4 c.273+14821A>G - IntronicSNV - 3/23
11-63849330-G-A MACROD1 c.518-66577C>T - IntronicSNV - 3/10
11-63849330-G-C MACROD1 c.518-66577C>G - IntronicSNV - 3/10
11-103808152-C-T PDGFD c.772+6028G>A - IntronicSNV - 5/6
21-41122288-C-G IGSF5 c.100+4063C>G - IntronicSNV - 2/8
15-67458639-T-C SMAD3 c.533-478T>C - IntronicSNV - 3/8
12-26798389-G-T ITPR2 c.2740+8520C>A - IntronicSNV - 21/56
5-122513814-C-T PRDM6 c.1497-2027C>T - IntronicSNV - 6/7
5-122513814-C-A PRDM6 c.1497-2027C>A - IntronicSNV - 6/7
2-68521742-G-A CNRIP1 c.331-584C>T - IntronicSNV - 2/2
5-167616743-G-A TENM2 c.2543-599G>A - IntronicSNV - 14/29
4-91143727-G-A CCSER1 c.1-85709G>A - IntronicSNV - 1/10
9-19017723-T-A SAXO1 c.38+15146A>T - IntronicSNV - 1/3
9-19017723-T-C SAXO1 c.38+15146A>G - IntronicSNV - 1/3
16-67232684-A-G E2F4 c.*658A>G - 3-UTRSNV 10/10 -
1-55597067-A-G USP24 c.3537+1151T>C - IntronicSNV - 31/67
19-10838486-G-A DNM2 c.161+9407G>A - IntronicSNV - 1/19
2-226290705-C-T NYAP2 c.221+16888C>T - IntronicSNV - 2/5
2-226290705-C-G NYAP2 c.221+16888C>G - IntronicSNV - 2/5
17-43208121-A-T PLCD3 c.163+1494T>A - IntronicSNV - 1/15
3-41912651-G-T ULK4 c.1656+12715C>A - IntronicSNV - 17/36
3-41912651-G-A ULK4 c.1656+12715C>T - IntronicSNV - 17/36
16-68356419-A-G PRMT7 c.132+1054A>G - IntronicSNV - 4/18
17-9686465-T-G DHRS7C c.155-1554A>C - IntronicSNV - 1/5
5-142015389-C-G FGF1 c.1-21697G>C - IntronicSNV - 1/3
1-109815252-A-G CELSR2 c.8055-10A>G - IntronicSNV - 29/33
3-10500517-G-A ATP2B2 c.1-9290C>T - IntronicSNV - 1/19
5-142015389-C-T FGF1 c.1-21697G>A - IntronicSNV - 1/3
7-27796242-G-T TAX1BP1 c.163-1408G>T - IntronicSNV - 2/16
8-4164013-A-T CSMD1 c.415+113462T>A - IntronicSNV - 3/69
2-25887558-A-C DTNB c.-2+8697T>G - intron_variant - 1/19
2-25887558-A-G DTNB c.-2+8697T>C - intron_variant - 1/19
X-66942625-G-A AR c.2450-44G>A - IntronicSNV - 6/7
12-90013089-T-G ATP2B1 c.1829+687A>C - IntronicSNV - 11/20
3-142567583-G-A PCOLCE2 c.193-269C>T - IntronicSNV - 2/8
6-154414563-A-G OPRM1 c.1164+1956A>G - IntronicSNV - 3/3
12-51357542-A-G HIGD1C c.229+2657A>G - IntronicSNV - 4/4
1-183180405-C-A LAMC2 c.268+3201C>A - IntronicSNV - 2/22
1-183180405-C-T LAMC2 c.268+3201C>T - IntronicSNV - 2/22
12-49334044-G-C ARF3 c.149-154C>G - IntronicSNV - 2/4
20-44522594-A-G CTSA c.747-33A>G - IntronicSNV - 7/14
3-54463904-C-T CACNA2D3 c.381+43103C>T - IntronicSNV - 4/37
10-28133187-G-A ARMC4 c.3021+16367C>T - IntronicSNV - 19/19
9-107669073-T-C ABCA1 c.1-3113A>G - IntronicSNV - 1/49
1-241496384-G-C RGS7 c.78+22615C>G - IntronicSNV - 2/17
10-14661008-A-G FAM107B c.469+48625T>C - IntronicSNV - 2/4
1-55630204-A-G USP24 c.927+1354T>C - IntronicSNV - 7/67
1-241496384-G-T RGS7 c.78+22615C>A - IntronicSNV - 2/17
12-90013089-T-C ATP2B1 c.1829+687A>G - IntronicSNV - 11/20
1-55513061-T-C PCSK9 c.523+742T>C - IntronicSNV - 3/11
21-15545240-C-T LIPI c.707-6468G>A - IntronicSNV - 4/9
7-18066569-C-T PRPS1L1 c.837G>A p.Glu279Glu Synonymous 1/1 -
16-83212398-G-C CDH13 c.484-38552G>C - IntronicSNV - 4/13
4-119854066-A-G SYNPO2 c.105+43770A>G - IntronicSNV - 1/3
4-119854066-A-T SYNPO2 c.105+43770A>T - IntronicSNV - 1/3
7-18066569-C-A PRPS1L1 c.837G>T p.Glu279Asp Missense 1/1 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
2-29766613-C-T ALK c.953-11631G>A - IntronicSNV - 3/28
1-55526428-T-G PCSK9 c.1682-620T>G - IntronicSNV - 10/11
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
15-53964746-G-A WDR72 c.1766-6781C>T - IntronicSNV - 13/19
7-139360240-A-G HIPK2 c.1104-43769T>C - intron_variant - 2/14
5-179476610-T-C RNF130 c.248-8963A>G - IntronicSNV - 1/8
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
6-161017993-G-T LPA c.3288-1426C>A - IntronicSNV - 20/38
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
6-20703952-A-G CDKAL1 c.372-35798A>G - IntronicSNV - 5/15
6-160960359-T-C LPA c.5735+716A>G - IntronicSNV - 36/38
6-161017993-G-A LPA c.3288-1426C>T - IntronicSNV - 20/38
1-55526428-T-C PCSK9 c.1682-620T>C - IntronicSNV - 10/11
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
21-15545350-G-T LIPI c.707-6578C>A - IntronicSNV - 4/9
22-26689635-C-T SEZ6L c.835+523C>T - IntronicSNV - 2/16
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
3-170831072-G-A TNIK c.2121-2406C>T - IntronicSNV - 18/32
13-97259622-G-A HS6ST3 c.708-225122G>A - IntronicSNV - 1/1
3-170831072-G-T TNIK c.2121-2406C>A - IntronicSNV - 18/32
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
1-119657938-T-C WARS2 c.90+25240A>G - IntronicSNV - 1/5
3-137729794-C-A CLDN18 c.220+11864C>A - IntronicSNV - 1/4
17-3693400-C-A ITGAE c.34+11005G>T - IntronicSNV - 1/30
19-53345321-T-A ZNF468 c.226A>T p.Arg76* Nonsense 4/4 -
17-62578143-C-T SMURF2 c.570-1034G>A - IntronicSNV - 7/18
19-56342061-C-A NLRP11 c.-63+1268G>T - intron_variant - 3/11
15-65154132-G-A PLEKHO2 c.483+358G>A - IntronicSNV - 5/5
12-114351057-T-C RBM19 c.2558+1717A>G - IntronicSNV - 21/23
5-179471201-C-T RNF130 c.248-3554G>A - IntronicSNV - 1/8
12-114294570-C-T RBM19 c.2664+2026G>A - IntronicSNV - 22/23
6-12297028-T-C EDN1 c.*728T>C - 3-UTRSNV 5/5 -
1-15724003-A-G FHAD1 c.*94A>G - 3-UTRSNV 31/31 -
3-194904584-C-T XXYLT1 c.653-27274G>A - IntronicSNV - 2/3
1-176508135-C-T PAPPA2 c.1-17324C>T - IntronicSNV - 1/22
2-28733361-A-G PLB1 c.56-6314A>G - IntronicSNV - 1/56
6-161081842-C-T LPA c.49+3356G>A - IntronicSNV - 1/38
2-226278301-T-A NYAP2 c.221+4484T>A - IntronicSNV - 2/5
1-176508135-C-A PAPPA2 c.1-17324C>A - IntronicSNV - 1/22
19-45373539-G-A NECTIN2 c.479-1571G>A - IntronicSNV - 2/5
19-45373539-G-C NECTIN2 c.479-1571G>C - IntronicSNV - 2/5
22-43846529-A-G MPPED1 c.406+15394A>G - IntronicSNV - 3/6
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
10-95410832-T-C PDE6C c.1936-4685T>C - IntronicSNV - 15/21
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
3-142567327-G-A PCOLCE2 c.193-13C>T - IntronicSNV - 2/8
5-132807148-G-A FSTL4 c.161-70470C>T - IntronicSNV - 3/15
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
19-11326119-A-T DOCK6 c.4050T>A p.Asn1350Lys Missense 32/48 -
6-160812262-T-C SLC22A3 c.430-6749T>C - IntronicSNV - 1/10
1-55513169-T-G PCSK9 c.523+850T>G - IntronicSNV - 3/11
6-154452963-T-C OPRM1 c.*13107T>C - IntergenicSNV 4/4 -
3-169100899-G-C MECOM c.38-1587C>G - IntronicSNV - 1/16
15-65153690-G-A PLEKHO2 c.399G>A p.Lys133Lys Synonymous 5/6 -
3-169100899-G-A MECOM c.38-1587C>T - IntronicSNV - 1/16
7-100458093-C-G SLC12A9 c.1218+239C>G - IntronicSNV - 9/13
10-104594507-A-G CYP17A1 c.666+35T>C - IntronicSNV - 3/7
9-107589134-A-T ABCA1 c.2337+95T>A - IntronicSNV - 16/49
5-122453652-A-T PRDM6 c.900+17996A>T - IntronicSNV - 3/7
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
16-67233591-A-G ELMO3 c.283A>G p.Ser95Gly Missense 5/20 -
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
4-173945730-A-G GALNTL6 c.1638+2954A>G - IntronicSNV - 12/12
4-173945730-A-T GALNTL6 c.1638+2954A>T - IntronicSNV - 12/12
6-12892754-C-T PHACTR1 c.250+142732C>T - IntronicSNV - 4/14
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
19-56333663-T-G NLRP11 c.1-4123A>C - IntronicSNV - 3/11
19-56333663-T-A NLRP11 c.1-4123A>T - IntronicSNV - 3/11
1-55593546-A-G USP24 c.3635+1604T>C - IntronicSNV - 32/67
19-11092139-G-A SMARCA4 c.1-2689G>A - IntronicSNV - 1/34
6-161128264-A-T PLG c.186-468A>T - IntronicSNV - 2/18
12-66256947-A-C HMGA2 c.249+24598A>C - IntronicSNV - 3/4
1-62960101-A-G DOCK7 c.4969T>C p.Leu1657Leu Synonymous 39/49 -
16-67911517-T-C EDC4 c.747T>C p.Cys249Cys Synonymous 6/29 -
10-1669110-C-T ADARB2 c.100+110135G>A - IntronicSNV - 1/9
9-107594364-A-G ABCA1 c.1510-256T>C - IntronicSNV - 12/49
12-49343724-C-T ARF3 c.-94+7369G>A - intron_variant - 1/4
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 -
9-8532115-G-C PTPRD c.353-3336C>G - IntronicSNV - 3/29
4-7466980-G-A SORCS2 c.549-66277G>A - IntronicSNV - 2/26
2-155211362-G-A GALNT13 c.1157-41141G>A - IntronicSNV - 9/12
11-47286290-T-C NR1H3 c.808+2721T>C - IntronicSNV - 6/8
20-44534651-G-A PLTP c.705+256C>T - IntronicSNV - 8/15
2-40522774-G-C SLC8A1 c.1809-117141C>G - IntronicSNV - 2/10
4-7467316-T-C SORCS2 c.549-65941T>C - IntronicSNV - 2/26
3-170834559-A-C TNIK c.2121-5893T>G - IntronicSNV - 18/32
6-20657865-A-G CDKAL1 c.371+8257A>G - IntronicSNV - 5/15
5-90056838-A-G ADGRV1 c.12120+1433A>G - IntronicSNV - 58/89
5-90056838-A-C ADGRV1 c.12120+1433A>C - IntronicSNV - 58/89
6-161161559-C-T PLG c.2019-784C>T - IntronicSNV - 16/18
7-129721932-A-G KLHDC10 c.166+11283A>G - IntronicSNV - 1/9
10-68640951-A-C CTNNA3 c.1048-105669T>G - IntronicSNV - 7/17
10-68640951-A-G CTNNA3 c.1048-105669T>C - IntronicSNV - 7/17
12-66228059-A-C HMGA2 c.199-4240A>C - IntronicSNV - 2/4
3-122285701-A-T DTX3L c.399+784A>T - IntronicSNV - 2/4
3-122285701-A-G DTX3L c.399+784A>G - IntronicSNV - 2/4
1-15674269-C-T FHAD1 c.2281-1269C>T - IntronicSNV - 17/30
19-11340057-A-G DOCK6 c.2719-346T>C - IntronicSNV - 22/47
6-20657564-A-G CDKAL1 c.371+7956A>G - IntronicSNV - 5/15
19-11334295-C-G DOCK6 c.2956-513G>C - IntronicSNV - 24/47
6-20717255-T-C CDKAL1 c.372-22495T>C - IntronicSNV - 5/15
20-44413095-C-G WFDC3 c.358+3380G>C - IntronicSNV - 4/6
17-58573865-C-G APPBP2 c.228-1887G>C - IntronicSNV - 2/12
6-151252985-G-A MTHFD1L c.1257-4955G>A - IntronicSNV - 11/27
2-232187155-C-T ARMC9 c.1774-9350C>T - IntronicSNV - 19/20
1-183170948-A-C LAMC2 c.80-6068A>C - IntronicSNV - 1/22
19-10838486-G-T DNM2 c.161+9407G>T - IntronicSNV - 1/19
18-9531484-A-G RALBP1 c.1455+545A>G - IntronicSNV - 7/9
11-103817645-A-G PDGFD c.573+745T>C - IntronicSNV - 4/6
1-183170948-A-G LAMC2 c.80-6068A>G - IntronicSNV - 1/22
3-122288210-G-A DTX3L c.1274G>A p.Arg425Lys Missense 3/5 -
1-207875175-G-C CR1L c.1328+212G>C - IntronicSNV - 9/11
17-62601288-A-G SMURF2 c.91+1432T>C - IntronicSNV - 2/18
1-207875175-G-T CR1L c.1328+212G>T - IntronicSNV - 9/11
20-44523782-C-T CTSA c.1142+10C>T - IntronicSNV - 11/14
8-40426928-G-C ZMAT4 c.674+11756C>G - IntronicSNV - 6/6
12-121435587-G-A HNF1A c.1501+119G>A - IntronicSNV - 7/9
12-121435587-G-T HNF1A c.1501+119G>T - IntronicSNV - 7/9
3-10483958-C-T ATP2B2 c.199+7071G>A - IntronicSNV - 2/19
2-155211362-G-C GALNT13 c.1157-41141G>C - IntronicSNV - 9/12
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
4-79356121-C-T FRAS1 c.5217+2363C>T - IntronicSNV - 38/41
6-161082847-G-A LPA c.49+2351C>T - IntronicSNV - 1/38
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
7-110790007-T-C IMMP2L c.240-186386A>G - IntronicSNV - 3/5
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
3-194906614-C-T XXYLT1 c.653-29304G>A - IntronicSNV - 2/3
6-161069290-C-T LPA c.210-1863G>A - IntronicSNV - 2/38
3-169165888-C-T MECOM c.38-66576G>A - IntronicSNV - 1/16
2-23898317-C-T KLHL29 c.941-8952C>T - IntronicSNV - 5/13
17-3693400-C-G ITGAE c.34+11005G>C - IntronicSNV - 1/30
10-14679858-A-G FAM107B c.469+29775T>C - IntronicSNV - 2/4
4-119853638-G-A SYNPO2 c.105+43342G>A - IntronicSNV - 1/3
19-11326119-A-G DOCK6 c.4050T>C p.Asn1350Asn Synonymous 32/48 -
5-167614971-T-A TENM2 c.2543-2371T>A - IntronicSNV - 14/29
19-10841049-T-C DNM2 c.161+11970T>C - IntronicSNV - 1/19
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
19-53345321-T-G ZNF468 c.226A>C p.Arg76Arg Synonymous 4/4 -
3-185530290-T-C IGF2BP2 c.239+10651A>G - IntronicSNV - 2/15
19-40596802-G-T ZNF780A c.-217C>A - 5_prime_UTR_variant 1/6 -
11-16917219-T-C PLEKHA7 c.222-24490A>G - IntronicSNV - 3/22
16-72965194-C-T ZFHX3 c.3216+19174G>A - IntronicSNV - 3/9
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
11-77583376-G-A AAMDC c.*15G>A - 3-UTRSNV 4/4 -
10-1669412-G-A ADARB2 c.100+109833C>T - IntronicSNV - 1/9
16-68359280-T-C PRMT7 c.282+545T>C - IntronicSNV - 5/18
1-55516004-C-A PCSK9 c.524-1947C>A - IntronicSNV - 3/11
2-68521648-C-A CNRIP1 c.331-490G>T - IntronicSNV - 2/2
17-38062217-C-T GSDMB c.844G>A p.Gly282Arg Missense 6/8 -
6-43649702-T-C MRPS18A c.113-845A>G - IntronicSNV - 1/5
19-56333663-T-C NLRP11 c.1-4123A>G - IntronicSNV - 3/11
1-109817838-T-C CELSR2 c.*1167T>C - 3-UTRSNV 34/34 -
4-173941839-T-C GALNTL6 c.1489-788T>C - IntronicSNV - 11/12
16-72930940-G-A ZFHX3 c.3217-7079C>T - IntronicSNV - 3/9
16-72930940-G-C ZFHX3 c.3217-7079C>G - IntronicSNV - 3/9
7-139360728-T-A HIPK2 c.1104-44257A>T - intron_variant - 2/14
3-54463125-A-G CACNA2D3 c.381+42324A>G - IntronicSNV - 4/37
16-85932988-C-T IRF8 c.-2+159C>T - intron_variant - 1/8
21-19167479-T-C C21orf91 c.727+46A>G - IntronicSNV - 4/4
2-68521648-C-G CNRIP1 c.331-490G>C - IntronicSNV - 2/2
15-57910164-G-C GCOM1 c.163-67G>C - IntronicSNV - 2/13
19-11342703-A-G DOCK6 c.2718+1176T>C - IntronicSNV - 22/47
7-27819650-A-G TAX1BP1 c.613-5132A>G - IntronicSNV - 5/16
6-161082695-T-C LPA c.49+2503A>G - IntronicSNV - 1/38
1-55625548-C-T USP24 c.994-190G>A - IntronicSNV - 8/67
10-95411697-T-A PDE6C c.1936-3820T>A - IntronicSNV - 15/21
10-95411697-T-C PDE6C c.1936-3820T>C - IntronicSNV - 15/21
2-212285103-T-C ERBB4 c.3135+63A>G - IntronicSNV - 25/26
8-10071620-A-G MSRA c.211+6209A>G - IntronicSNV - 2/5
1-176508293-T-C PAPPA2 c.1-17166T>C - IntronicSNV - 1/22
17-9688501-A-G DHRS7C c.155-3590T>C - IntronicSNV - 1/5
2-29766861-A-T ALK c.953-11879T>A - IntronicSNV - 3/28
9-8532140-G-T PTPRD c.353-3361C>A - IntronicSNV - 3/29
9-8532140-G-A PTPRD c.353-3361C>T - IntronicSNV - 3/29
1-10799577-T-C CASZ1 c.-77+21181A>G - intron_variant - 2/15
19-40596196-T-A ZNF780A c.-115-54A>T - intron_variant - 1/5
15-57910164-G-A GCOM1 c.163-67G>A - IntronicSNV - 2/13
15-58724792-T-A LIPC c.88+473T>A - IntronicSNV - 1/8
2-25887091-G-A DTNB c.-2+9164C>T - intron_variant - 1/19
15-29722088-A-G FAM189A1 c.220-48053T>C - IntronicSNV - 1/10
16-72931085-A-G ZFHX3 c.3217-7224T>C - IntronicSNV - 3/9
2-191996006-G-A STAT4 c.273+15333C>T - IntronicSNV - 3/23
1-55513169-T-C PCSK9 c.523+850T>C - IntronicSNV - 3/11
2-28733361-A-T PLB1 c.56-6314A>T - IntronicSNV - 1/56