PMID: 23555974

Genetic variants from lipid-related pathways and risk for incident myocardial infarction.

PloS one
C Song, NL Pedersen, CA Reynolds, M Sabater-Lleal, S Kanoni, C Willenborg, , AC Syvänen, H Watkins, A Hamsten, JA Prince, E Ingelsson
2013

477 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-116701535-T-C APOC3 c.102T>C p.Gly34Gly Synonymous 3/4 -
9-107602678-G-T ABCA1 c.936C>A p.Pro312Pro Synonymous 9/50 -
1-230310972-T-C GALNT2 c.127-2992T>C - IntronicSNV - 1/15
8-19810826-G-A LPL c.435G>A p.Glu145Glu Synonymous 4/10 -
18-47121698-A-C LIPG c.*4806A>C - IntergenicSNV 10/10 -
12-57567762-C-A LRP1 c.3546C>A p.Cys1182* Nonsense 22/89 -
12-57567762-C-T LRP1 c.3546C>T p.Cys1182Cys Synonymous 22/89 -
9-107553185-A-G ABCA1 c.5927+18T>C - IntronicSNV - 44/49
9-107668064-G-C ABCA1 c.1-2104C>G - IntronicSNV - 1/49
1-230402624-A-G GALNT2 c.1440+1511A>G - IntronicSNV - 14/15
11-107993500-A-C ACAT1 c.72+1095A>C - IntronicSNV - 1/11
17-17747289-A-G TOM1L2 c.*3660T>C - 3-UTRSNV 14/14 -
8-19819077-T-A LPL c.1322+483T>A - IntronicSNV - 8/9
7-73020210-C-A MLXIPL c.820+30G>T - IntronicSNV - 6/16
7-73020210-C-T MLXIPL c.820+30G>A - IntronicSNV - 6/16
6-46672943-A-G PLA2G7 c.1136T>C p.Val379Ala Missense 11/12 -
22-42269532-C-T SREBF2 c.868-270C>T - IntronicSNV - 4/18
15-58724792-T-A LIPC c.88+473T>A - IntronicSNV - 1/8
15-58834741-G-A LIPC c.465G>A p.Val155Val Synonymous 4/9 -
15-58834741-G-T LIPC c.465G>T p.Val155Val Synonymous 4/9 -
17-17716662-G-C SREBF1 c.3214+20C>G - IntronicSNV - 18/18
11-116723737-C-G SIK3 c.3512-3738G>C - intron_variant - 20/23
18-47102002-T-C LIPG c.793+42T>C - IntronicSNV - 5/9
12-57589659-C-T LRP1 c.8574C>T p.Cys2858Cys Synonymous 54/89 -
8-19818436-C-T LPL c.1164C>T p.Thr388Thr Synonymous 8/10 -
8-19818436-C-A LPL c.1164C>A p.Thr388Thr Synonymous 8/10 -
15-58839298-C-T LIPC c.808+1124C>T - IntronicSNV - 5/8
1-230300586-C-G GALNT2 c.127-13378C>G - IntronicSNV - 1/15
1-230300586-C-T GALNT2 c.127-13378C>T - IntronicSNV - 1/15
8-19815098-C-T LPL c.1018+1504C>T - IntronicSNV - 6/9
11-47280653-G-A NR1H3 c.1-115G>A - IntronicSNV - 1/8
7-72987354-C-T TBL2 c.599-54G>A - IntronicSNV - 4/6
9-107661150-C-A ABCA1 c.66+4745G>T - IntronicSNV - 2/49
22-42239348-G-C SREBF2 c.88+9986G>C - IntronicSNV - 1/18
22-42247360-G-T SREBF2 c.89-15475G>T - IntronicSNV - 1/18
14-100166489-G-C CYP46A1 c.443+51G>C - IntronicSNV - 5/14
15-58802026-A-C LIPC c.89-28506A>C - IntronicSNV - 1/8
22-42247360-G-A SREBF2 c.89-15475G>A - IntronicSNV - 1/18
12-125269799-C-G SCARB1 c.1401+1104G>C - IntronicSNV - 11/12
22-42255525-A-G SREBF2 c.89-7310A>G - IntronicSNV - 1/18
20-44532255-A-G PLTP c.943-1012T>C - IntronicSNV - 10/15
11-108006047-A-C ACAT1 c.435+78A>C - IntronicSNV - 5/11
9-107551538-C-T ABCA1 c.5928-690G>A - IntronicSNV - 44/49
15-58847263-T-C LIPC c.1052-5800T>C - IntronicSNV - 6/8
15-58834391-A-G LIPC c.456+225A>G - IntronicSNV - 3/8
9-107609476-C-G ABCA1 c.721-1626G>C - IntronicSNV - 7/49
15-58838010-A-G LIPC c.644A>G p.Asn215Ser Missense 5/9 -
1-55532742-G-C USP24 c.*1976C>G - 3-UTRSNV 68/68 -
1-20303151-C-T PLA2G2A c.293-815G>A - IntronicSNV - 5/5
18-47123763-C-T LIPG c.*6871C>T - IntergenicSNV 10/10 -
8-19799641-G-A LPL c.88+2602G>A - IntronicSNV - 1/9
1-230386341-T-A GALNT2 c.1009+35T>A - IntronicSNV - 10/15
6-160199687-T-A ACAT2 c.1024-4T>A - IntronicSNV - 8/8
6-160199687-T-C ACAT2 c.1024-4T>C - IntronicSNV - 8/8
12-57593101-G-A LRP1 c.9783G>A p.Thr3261Thr Synonymous 61/89 -
12-57593101-G-C LRP1 c.9783G>C p.Thr3261Thr Synonymous 61/89 -
9-107677932-A-T ABCA1 c.1-11972T>A - IntronicSNV - 1/49
1-230295789-A-G GALNT2 c.127-18175A>G - IntronicSNV - 1/15
9-107661150-C-T ABCA1 c.66+4745G>A - IntronicSNV - 2/49
2-21232804-G-A APOB c.6936C>T p.Asp2312Asp Synonymous 26/29 -
11-47269159-T-C ACP2 c.297+33A>G - IntronicSNV - 3/10
15-58754497-G-T LIPC c.88+30178G>T - IntronicSNV - 1/8
1-20301964-G-A PLA2G2A c.*230C>T - 3-UTRSNV 6/6 -
2-21225753-C-A APOB c.12541G>T p.Glu4181* Nonsense 29/29 -
16-57007353-C-T CETP c.861C>T p.Phe287Phe Synonymous 9/16 -
1-230400355-T-C GALNT2 c.1314-632T>C - IntronicSNV - 13/15
15-58724706-G-T LIPC c.88+387G>T - IntronicSNV - 1/8
6-32155581-A-G PBX2 c.735-22T>C - IntronicSNV - 4/8
1-230389838-G-C GALNT2 c.1010-1126G>C - IntronicSNV - 10/15
2-21259562-T-C APOB c.693+410A>G - IntronicSNV - 6/28
11-116661826-T-C APOA5 c.162-43A>G - IntronicSNV - 3/3
11-121475922-T-A SORL1 c.4752T>A p.Ala1584Ala Synonymous 34/48 -
15-58857378-A-G LIPC c.1388+1456A>G - IntronicSNV - 8/8
2-21250914-G-A APOB c.1853C>T p.Ala618Val Missense 14/29 -
7-136661400-G-C CHRM2 c.-124-15534G>C - intron_variant - 2/3
20-44540564-C-G PLTP c.-12+154G>C - intron_variant - 1/15
12-125322995-G-T SCARB1 c.127-20742C>A - IntronicSNV - 1/12
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
14-100185023-G-T CYP46A1 c.980+560G>T - IntronicSNV - 10/14
8-19799545-G-C LPL c.88+2506G>C - IntronicSNV - 1/9
8-19811006-T-C LPL c.541+74T>C - IntronicSNV - 4/9
11-47293799-G-C MADD c.1-1667G>C - IntronicSNV - 1/32
9-107678797-C-T ABCA1 c.-93+11419G>A - intron_variant - 1/49
9-107546901-A-G ABCA1 c.6646-165T>C - IntronicSNV - 49/49
8-19823963-C-T LPL c.*1142C>T - 3-UTRSNV 10/10 -
9-107548493-G-T ABCA1 c.6401+86C>A - IntronicSNV - 48/49
12-125287216-A-C SCARB1 c.1010-2428T>G - IntronicSNV - 7/12
12-125317582-C-T SCARB1 c.127-15329G>A - IntronicSNV - 1/12
15-58737661-C-A LIPC c.88+13342C>A - IntronicSNV - 1/8
15-58724706-G-A LIPC c.88+387G>A - IntronicSNV - 1/8
2-27566520-T-A GTF3C2 c.1-99A>T - IntronicSNV - 1/18
16-57017662-G-A CETP c.*84G>A - 3-UTRSNV 16/16 -
18-47093790-C-A LIPG c.280-22C>A - IntronicSNV - 2/9
18-47093790-C-T LIPG c.280-22C>T - IntronicSNV - 2/9
1-230347952-C-T GALNT2 c.374+8916C>T - IntronicSNV - 3/15
12-57602815-C-G LRP1 c.12146-51C>G - IntronicSNV - 78/88
8-19815023-A-T LPL c.1018+1429A>T - IntronicSNV - 6/9
9-107600193-A-G ABCA1 c.1055-345T>C - IntronicSNV - 9/49
14-100162924-C-G CYP46A1 c.283-2879C>G - IntronicSNV - 3/14
15-58733512-G-A LIPC c.88+9193G>A - IntronicSNV - 1/8
11-121371120-G-A SORL1 c.939+3362G>A - IntronicSNV - 6/47
9-107564466-C-G ABCA1 c.4593-26G>C - IntronicSNV - 33/49
3-185507299-A-T IGF2BP2 c.239+33642T>A - IntronicSNV - 2/15
14-100182687-C-A CYP46A1 c.907+151C>A - IntronicSNV - 9/14
14-100182687-C-T CYP46A1 c.907+151C>T - IntronicSNV - 9/14
12-57525756-G-A LRP1 c.67+2942G>A - IntronicSNV - 1/88
9-107601541-G-A ABCA1 c.1054+1019C>T - IntronicSNV - 9/49
1-230346829-C-T GALNT2 c.374+7793C>T - IntronicSNV - 3/15
2-27857992-T-A GPN1 c.430-15T>A - intron_variant - 6/13
12-57592557-C-T LRP1 c.9676+104C>T - IntronicSNV - 60/88
1-230398241-C-T GALNT2 c.1137-78C>T - IntronicSNV - 11/15
12-57592557-C-G LRP1 c.9676+104C>G - IntronicSNV - 60/88
9-107668825-G-C ABCA1 c.1-2865C>G - IntronicSNV - 1/49
19-50884885-C-A NR1H2 c.737-338C>A - IntronicSNV - 7/8
2-21244358-T-G APOB c.2816+1345A>C - IntronicSNV - 18/28
15-58797300-G-A LIPC c.89-33232G>A - IntronicSNV - 1/8
11-47269936-C-T ACP2 c.115-252G>A - IntronicSNV - 1/10
8-19816934-T-C LPL c.1139+43T>C - IntronicSNV - 7/9
12-57533690-C-A LRP1 c.190+1326C>A - IntronicSNV - 2/88
8-19815189-C-T LPL c.1019-1582C>T - IntronicSNV - 6/9
16-57011243-C-A CETP c.982-760C>A - IntronicSNV - 10/15
16-67977382-T-C LCAT c.155-267A>G - IntronicSNV - 1/5
9-107685589-T-C ABCA1 c.-93+4627A>G - intron_variant - 1/49
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
12-125265636-A-G SCARB1 c.*1593T>C - IntronicSNV - 12/12
9-107548566-T-C ABCA1 c.6401+13A>G - IntronicSNV - 48/49
16-57011243-C-T CETP c.982-760C>T - IntronicSNV - 10/15
16-56998572-G-C CETP c.233+1536G>C - IntronicSNV - 2/15
15-58860963-C-G LIPC c.1437C>G p.Thr479Thr Synonymous 9/9 -
15-58860963-C-A LIPC c.1437C>A p.Thr479Thr Synonymous 9/9 -
1-109857815-A-C SORT1 c.2251-415T>G - IntronicSNV - 17/19
14-100186443-A-G CYP46A1 c.981-1133A>G - IntronicSNV - 10/14
17-17728043-A-G SREBF1 c.92-4208T>C - IntronicSNV - 1/18
19-11227480-A-C LDLR c.1706-55A>C - IntronicSNV - 11/17
16-57009388-G-T CETP c.981+325G>T - IntronicSNV - 10/15
16-57009388-G-A CETP c.981+325G>A - IntronicSNV - 10/15
11-116722693-G-C SIK3 c.3512-2694C>G - intron_variant - 20/23
1-230372061-A-G GALNT2 c.474-38A>G - IntronicSNV - 4/15
9-107536895-A-G NIPSNAP3B c.*1541A>G - IntergenicSNV 6/6 -
11-47269159-T-A ACP2 c.297+33A>T - IntronicSNV - 3/10
6-46681403-A-G PLA2G7 c.470+794T>C - IntronicSNV - 5/11
12-125299830-C-T SCARB1 c.285-170G>A - IntronicSNV - 2/12
2-27550967-A-G GTF3C2 c.2346T>C p.Pro782Pro Synonymous 17/19 -
7-136693661-T-A CHRM2 c.1-5952T>A - IntronicSNV - 3/3
6-46676019-C-G PLA2G7 c.870-121G>C - IntronicSNV - 9/11
14-100190130-T-G CYP46A1 c.1177-1598T>G - IntronicSNV - 12/14
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
12-57585144-C-G LRP1 c.7278C>G p.Ala2426Ala Synonymous 44/89 -
8-19822810-C-T LPL c.-1-11C>T - IntronicSNV - 9/9
7-136671558-G-C CHRM2 c.-124-5376G>C - intron_variant - 2/3
7-136671558-G-T CHRM2 c.-124-5376G>T - intron_variant - 2/3
6-160202282-C-G TCP1 c.798-140G>C - IntronicSNV - 7/11
9-107624029-C-G ABCA1 c.474G>C p.Leu158Leu Synonymous 6/50 -
9-107624029-C-T ABCA1 c.474G>A p.Leu158Leu Synonymous 6/50 -
11-108009927-G-A ACAT1 c.579+159G>A - IntronicSNV - 6/11
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
14-100190130-T-A CYP46A1 c.1177-1598T>A - IntronicSNV - 12/14
15-58840039-A-G LIPC c.809-490A>G - IntronicSNV - 5/8
19-11227554-C-T LDLR c.1725C>T p.Leu575Leu Synonymous 12/18 -
7-73020337-C-G MLXIPL c.723G>C p.Gln241His Missense 6/17 -
19-11214533-T-G LDLR c.313+1071T>G - IntronicSNV - 3/17
19-11214533-T-A LDLR c.313+1071T>A - IntronicSNV - 3/17
12-125317391-C-G SCARB1 c.127-15138G>C - IntronicSNV - 1/12
18-47123237-T-C LIPG c.*6345T>C - IntergenicSNV 10/10 -
1-20304857-G-A PLA2G2A c.185+16C>T - IntronicSNV - 4/5
1-109815252-A-G CELSR2 c.8055-10A>G - IntronicSNV - 29/33
1-109923677-G-T SORT1 c.307-11466C>A - IntronicSNV - 1/19
12-125320828-A-G SCARB1 c.127-18575T>C - IntronicSNV - 1/12
18-47095487-T-C LIPG c.460-320T>C - IntronicSNV - 3/9
11-121478958-C-T SORL1 c.5239+73C>T - IntronicSNV - 38/47
9-107602678-G-A ABCA1 c.936C>T p.Pro312Pro Synonymous 9/50 -
1-55524116-C-T PCSK9 c.1355-56C>T - IntronicSNV - 8/11
12-125265935-T-C SCARB1 c.*1294A>G - IntronicSNV 13/13 -
1-55524116-C-A PCSK9 c.1355-56C>A - IntronicSNV - 8/11
1-55524116-C-G PCSK9 c.1355-56C>G - IntronicSNV - 8/11
15-58769762-A-G LIPC c.88+45443A>G - IntronicSNV - 1/8
1-109814880-C-T CELSR2 c.7927-20C>T - IntronicSNV - 28/33
1-230308906-T-A GALNT2 c.127-5058T>A - IntronicSNV - 1/15
12-125304004-C-T SCARB1 c.127-1751G>A - IntronicSNV - 1/12
1-55532742-G-T USP24 c.*1976C>A - 3-UTRSNV 68/68 -
9-107671659-T-C ABCA1 c.1-5699A>G - IntronicSNV - 1/49
11-47293457-C-T MADD c.-89+1660C>T - intron_variant - 1/32
6-32161396-T-A GPSM3 c.-101-495A>T - intron_variant - 3/7
6-32161396-T-G GPSM3 c.-101-495A>C - intron_variant - 3/7
11-108014088-T-C ACAT1 c.941-622T>C - IntronicSNV - 9/11
15-58802026-A-T LIPC c.89-28506A>T - IntronicSNV - 1/8
15-58838010-A-C LIPC c.644A>C p.Asn215Thr Missense 5/9 -
6-160200026-A-C ACAT2 c.*165A>C - 3-UTRSNV 9/9 -
12-57569478-C-A LRP1 c.3783C>A p.Cys1261* Nonsense 23/89 -
22-42295970-G-T SREBF2 c.2739-364G>T - IntronicSNV - 15/18
14-100162924-C-T CYP46A1 c.283-2879C>T - IntronicSNV - 3/14
22-42295970-G-C SREBF2 c.2739-364G>C - IntronicSNV - 15/18
6-32151222-G-A AGER c.356-57C>T - IntronicSNV - 3/10
9-107665511-C-T ABCA1 c.66+384G>A - IntronicSNV - 2/49
19-11238807-C-T LDLR c.2389+46C>T - IntronicSNV - 16/17
9-107613883-C-G ABCA1 c.721-6033G>C - IntronicSNV - 7/49
19-11238807-C-G LDLR c.2389+46C>G - IntronicSNV - 16/17
15-58791354-T-C LIPC c.89-39178T>C - IntronicSNV - 1/8
9-107568705-C-T ABCA1 c.4281G>A p.Thr1427Thr Synonymous 31/50 -
9-107613883-C-T ABCA1 c.721-6033G>A - IntronicSNV - 7/49
9-107576246-G-A ABCA1 c.3901+153C>T - IntronicSNV - 27/49
15-58724524-A-G LIPC c.88+205A>G - IntronicSNV - 1/8
6-46689529-T-C PLA2G7 c.109+991A>G - IntronicSNV - 2/11
14-100162924-C-A CYP46A1 c.283-2879C>A - IntronicSNV - 3/14
2-27703495-A-G IFT172 c.785+418T>C - IntronicSNV - 8/47
9-107544700-C-T ABCA1 c.*1896G>A - 3-UTRSNV 50/50 -
2-27703495-A-T IFT172 c.785+418T>A - IntronicSNV - 8/47
19-11226944-C-T LDLR c.1705+56C>T - IntronicSNV - 11/17
9-107550639-A-G ABCA1 c.6069+68T>C - IntronicSNV - 45/49
6-46696507-T-G PLA2G7 c.1-5879A>C - IntronicSNV - 1/11
17-17747366-A-C TOM1L2 c.*3583T>G - 3-UTRSNV 14/14 -
17-17747366-A-G TOM1L2 c.*3583T>C - 3-UTRSNV 14/14 -
15-58835317-C-T LIPC c.574+467C>T - IntronicSNV - 4/8
15-101834929-A-G SNRPA1 c.82+373T>C - IntronicSNV - 1/8
15-58835317-C-A LIPC c.574+467C>A - IntronicSNV - 4/8
9-107588777-C-T ABCA1 c.2337+452G>A - IntronicSNV - 16/49
15-58804663-T-C LIPC c.89-25869T>C - IntronicSNV - 1/8
15-101828423-C-T SNRPA1 c.310-516G>A - IntronicSNV - 3/8
9-107566877-C-A ABCA1 c.4559+30G>T - IntronicSNV - 32/49
1-55513521-C-G PCSK9 c.523+1202C>G - IntronicSNV - 3/11
1-55513521-C-A PCSK9 c.523+1202C>A - IntronicSNV - 3/11
1-230402926-G-T GALNT2 c.1440+1813G>T - IntronicSNV - 14/15
9-107664961-A-G ABCA1 c.66+934T>C - IntronicSNV - 2/49
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
1-230402926-G-A GALNT2 c.1440+1813G>A - IntronicSNV - 14/15
2-21225753-C-T APOB c.12541G>A p.Glu4181Lys Missense 29/29 -
8-19803093-C-T LPL c.89-2598C>T - IntronicSNV - 1/9
15-101813917-C-T SELENOS c.484+708G>A - IntronicSNV - 5/5
18-47093864-C-T LIPG c.332C>T p.Thr111Ile Missense 3/10 -
6-46667343-C-A TDRD6 c.6261+1519C>A - IntronicSNV - 3/3
18-47093864-C-A LIPG c.332C>A p.Thr111Lys Missense 3/10 -
22-42281429-A-G SREBF2 c.2208+414A>G - IntronicSNV - 11/18
1-230313911-T-C GALNT2 c.127-53T>C - IntronicSNV - 1/15
6-46667343-C-T TDRD6 c.6261+1519C>T - IntronicSNV - 3/3
11-116693464-C-G APOA4 c.87G>C p.Thr29Thr Synonymous 2/3 -
11-116693464-C-T APOA4 c.87G>A p.Thr29Thr Synonymous 2/3 -
19-11238492-A-G LDLR c.2312-192A>G - IntronicSNV - 15/17
11-18256521-A-C SAA4 c.91+862T>G - IntronicSNV - 2/3
11-18256521-A-T SAA4 c.91+862T>A - IntronicSNV - 2/3
7-73015862-G-A MLXIPL c.902-1837C>T - IntronicSNV - 7/16
14-100153902-C-T CYP46A1 c.119+3029C>T - IntronicSNV - 1/14
7-73015862-G-C MLXIPL c.902-1837C>G - IntronicSNV - 7/16
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 -
19-11242307-G-C LDLR c.*315G>C - 3-UTRSNV 18/18 -
8-19811967-C-T LPL c.775+103C>T - IntronicSNV - 5/9
1-230287128-T-G GALNT2 c.127-26836T>G - IntronicSNV - 1/15
11-27677041-C-G BDNF c.*2326G>C - 3_prime_UTR_variant 1/1 -
19-11238239-C-G LDLR c.2312-445C>G - IntronicSNV - 15/17
2-27857992-T-C GPN1 c.430-15T>C - intron_variant - 6/13
11-116660813-G-A APOA5 c.*31C>T - 3-UTRSNV 4/4 -
11-108006156-G-C ACAT1 c.435+187G>C - IntronicSNV - 5/11
9-107562804-T-C ABCA1 c.4760A>G p.Lys1587Arg Missense 35/50 -
8-19813676-C-A LPL c.1018+82C>A - IntronicSNV - 6/9
6-46669936-C-A TDRD6 c.*312C>A - 3-UTRSNV 4/4 -
15-101828423-C-G SNRPA1 c.310-516G>C - IntronicSNV - 3/8
12-125332955-T-C SCARB1 c.126+15186A>G - IntronicSNV - 1/12
12-125332955-T-A SCARB1 c.126+15186A>T - IntronicSNV - 1/12
1-230324067-T-G GALNT2 c.220+10010T>G - IntronicSNV - 2/15
11-107993500-A-G ACAT1 c.72+1095A>G - IntronicSNV - 1/11
12-57535266-C-A LRP1 c.300C>A p.Asp100Glu Missense 3/89 -
12-57535266-C-T LRP1 c.300C>T p.Asp100Asp Synonymous 3/89 -
15-58847372-C-G LIPC c.1052-5691C>G - IntronicSNV - 6/8
22-42253727-G-A SREBF2 c.89-9108G>A - IntronicSNV - 1/18
14-100175275-C-G CYP46A1 c.693+1260C>G - IntronicSNV - 7/14
19-11227326-C-A LDLR c.1706-209C>A - IntronicSNV - 11/17
9-107687104-C-T ABCA1 c.-93+3112G>A - intron_variant - 1/49
12-57585144-C-T LRP1 c.7278C>T p.Ala2426Ala Synonymous 44/89 -
12-125327404-C-G SCARB1 c.126+20737G>C - IntronicSNV - 1/12
6-32146657-G-C RNF5 c.140+229G>C - IntronicSNV - 1/5
6-32146657-G-A RNF5 c.140+229G>A - IntronicSNV - 1/5
2-27730817-G-A GCKR c.1241-27G>A - IntronicSNV - 14/18
19-11227326-C-G LDLR c.1706-209C>G - IntronicSNV - 11/17
7-136592969-G-A CHRM2 c.-125+38804G>A - intron_variant - 2/3
20-44530634-A-G PLTP c.1175+272T>C - IntronicSNV - 12/15
12-125327404-C-T SCARB1 c.126+20737G>A - IntronicSNV - 1/12
1-109856306-G-A SORT1 c.*359C>T - 3-UTRSNV 20/20 -
12-125269692-G-C SCARB1 c.1401+1211C>G - IntronicSNV - 11/12
12-125269692-G-A SCARB1 c.1401+1211C>T - IntronicSNV - 11/12
1-230324364-T-C GALNT2 c.220+10307T>C - IntronicSNV - 2/15
1-230355248-C-T GALNT2 c.374+16212C>T - IntronicSNV - 3/15
20-44538484-G-T PLTP c.329+97C>A - IntronicSNV - 4/15
11-18267997-A-T SAA2 c.92-402T>A - IntronicSNV - 2/3
9-107644287-G-A ABCA1 c.421+1033C>T - IntronicSNV - 5/49
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
6-32147761-T-A RNF5 c.328-25T>A - IntronicSNV - 4/5
10-94257218-A-T IDE c.1431-6866T>A - IntronicSNV - 11/24
6-46684222-C-T PLA2G7 c.275G>A p.Arg92His Missense 4/12 -
7-72985148-C-T TBL2 c.1033G>A p.Val345Ile Missense 7/7 -
12-57543572-C-G LRP1 c.841+4299C>G - IntronicSNV - 6/88
1-230295789-A-T GALNT2 c.127-18175A>T - IntronicSNV - 1/15
16-56999258-A-C CETP c.233+2222A>C - IntronicSNV - 2/15
15-58746830-T-C LIPC c.88+22511T>C - IntronicSNV - 1/8
6-46684222-C-A PLA2G7 c.275G>T p.Arg92Leu Missense 4/12 -
7-72985148-C-A TBL2 c.1033G>T p.Val345Phe Missense 7/7 -
12-57543572-C-T LRP1 c.841+4299C>T - IntronicSNV - 6/88
11-116727936-A-T SIK3 c.3511+590T>A - intron_variant - 20/23
17-17716662-G-T SREBF1 c.3214+20C>A - IntronicSNV - 18/18
6-46689762-T-C PLA2G7 c.109+758A>G - IntronicSNV - 2/11
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
12-125300472-G-T SCARB1 c.285-812C>A - IntronicSNV - 2/12
19-11224491-A-G LDLR c.1586+53A>G - IntronicSNV - 10/17
12-125290856-A-T SCARB1 c.1009+1451T>A - IntronicSNV - 7/12
7-136701308-T-A CHRM2 c.*295T>A - 3-UTRSNV 4/4 -
9-107677211-G-C ABCA1 c.1-11251C>G - IntronicSNV - 1/49
12-125317391-C-A SCARB1 c.127-15138G>T - IntronicSNV - 1/12
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
2-27860258-G-A GPN1 c.525-819G>A - intron_variant - 7/13
8-19799641-G-T LPL c.88+2602G>T - IntronicSNV - 1/9
6-46676783-T-A PLA2G7 c.869+281A>T - IntronicSNV - 9/11
12-125261441-G-A SCARB1 c.*1692C>T - 3_prime_UTR_variant 13/13 -
12-125265973-G-T SCARB1 c.*1256C>A - IntronicSNV - 12/12
5-74646878-C-T HMGCR c.942-15C>T - IntronicSNV - 9/19
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 -
8-19812812-C-T LPL c.776-540C>T - IntronicSNV - 5/9
9-107620867-C-T ABCA1 c.656G>A p.Arg219Lys Missense 7/50 -
14-100136420-A-T HHIPL1 c.1730+1780A>T - IntronicSNV - 7/8
14-100136420-A-G HHIPL1 c.1730+1780A>G - IntronicSNV - 7/8
12-125265973-G-C SCARB1 c.*1256C>G - IntronicSNV - 12/12
12-125265973-G-A SCARB1 c.*1256C>T - IntronicSNV - 12/12
16-57005550-C-T CETP c.658+257C>T - IntronicSNV - 7/15
18-47121698-A-G LIPG c.*4806A>G - IntergenicSNV 10/10 -
11-121367921-C-A SORL1 c.939+163C>A - IntronicSNV - 6/47
11-121367921-C-T SORL1 c.939+163C>T - IntronicSNV - 6/47
18-47109693-G-A LIPG c.1158-233G>A - IntronicSNV - 7/9
11-47282024-C-T NR1H3 c.297C>T p.Ser99Ser Synonymous 4/9 -
12-125317125-G-A SCARB1 c.127-14872C>T - IntronicSNV - 1/12
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
7-136676570-A-T CHRM2 c.-124-364A>T - intron_variant - 2/3
7-136676570-A-G CHRM2 c.-124-364A>G - intron_variant - 2/3
1-109910013-C-T SORT1 c.440+17G>A - IntronicSNV - 3/19
12-57532982-T-C LRP1 c.190+618T>C - IntronicSNV - 2/88
9-107647019-C-T ABCA1 c.161-170G>A - IntronicSNV - 3/49
15-58841736-C-G LIPC c.1051+965C>G - IntronicSNV - 6/8
16-57015545-C-A CETP c.1215-14C>A - IntronicSNV - 12/15
16-57015545-C-T CETP c.1215-14C>T - IntronicSNV - 12/15
2-27874332-A-C GPN1 c.*1265A>C - IntergenicSNV 14/14 -
2-21227383-C-G APOB c.11903+50G>C - IntronicSNV - 27/28
14-100172899-A-G CYP46A1 c.444-85A>G - IntronicSNV - 5/14
15-58751201-T-A LIPC c.88+26882T>A - IntronicSNV - 1/8
22-42287454-A-G SREBF2 c.2209-1667A>G - IntronicSNV - 11/18
22-42240797-C-T SREBF2 c.88+11435C>T - IntronicSNV - 1/18
12-57540848-C-G LRP1 c.841+1575C>G - IntronicSNV - 6/88
15-58831363-A-G LIPC c.273+647A>G - IntronicSNV - 2/8
1-55509872-T-C PCSK9 c.399+165T>C - IntronicSNV - 2/11
22-42289500-G-C SREBF2 c.2377+211G>C - IntronicSNV - 12/18
22-42289500-G-A SREBF2 c.2377+211G>A - IntronicSNV - 12/18
6-32154285-A-G PBX2 c.1201-34T>C - IntronicSNV - 8/8
7-136680801-A-G CHRM2 c.-47+3790A>G - intron_variant - 3/3
1-109897103-A-G SORT1 c.594T>C p.Phe198Phe Synonymous 5/20 -
15-58765183-T-G LIPC c.88+40864T>G - IntronicSNV - 1/8
15-58765183-T-A LIPC c.88+40864T>A - IntronicSNV - 1/8
15-58765183-T-C LIPC c.88+40864T>C - IntronicSNV - 1/8
6-46696593-G-A PLA2G7 c.1-5965C>T - IntronicSNV - 1/11
15-58801234-G-A LIPC c.89-29298G>A - IntronicSNV - 1/8
11-121380965-G-A SORL1 c.940-2747G>A - IntronicSNV - 6/47
1-230389838-G-T GALNT2 c.1010-1126G>T - IntronicSNV - 10/15
2-27731212-T-C GCKR c.1422+94T>C - IntronicSNV - 16/18
12-57590797-C-T LRP1 c.8925C>T p.Asp2975Asp Synonymous 56/89 -
22-42258577-C-G SREBF2 c.89-4258C>G - IntronicSNV - 1/18
6-160198395-G-A ACAT2 c.819G>A p.Gly273Gly Synonymous 7/9 -
1-230346829-C-G GALNT2 c.374+7793C>G - IntronicSNV - 3/15
9-107566877-C-G ABCA1 c.4559+30G>C - IntronicSNV - 32/49
1-230341905-C-T GALNT2 c.374+2869C>T - IntronicSNV - 3/15
16-67985706-C-A SLC12A4 c.1132+20G>T - IntronicSNV - 8/23
15-58737382-G-A LIPC c.88+13063G>A - IntronicSNV - 1/8
16-67985706-C-T SLC12A4 c.1132+20G>A - IntronicSNV - 8/23
2-21228827-C-T APOB c.10913G>A p.Arg3638Gln Missense 26/29 -
7-136671558-G-A CHRM2 c.-124-5376G>A - intron_variant - 2/3
18-47123122-C-T LIPG c.*6230C>T - IntergenicSNV 10/10 -
1-230278826-A-G GALNT2 c.127-35138A>G - IntronicSNV - 1/15
19-11206530-T-A LDLR c.68-4369T>A - IntronicSNV - 1/17
6-32147761-T-C RNF5 c.328-25T>C - IntronicSNV - 4/5
1-55538462-C-T USP24 c.7599G>A p.Lys2533Lys Synonymous 65/68 -
15-58778412-G-C LIPC c.89-52120G>C - IntronicSNV - 1/8
2-27801493-T-C C2orf16 c.2054T>C p.Val685Ala Missense 1/1 -
10-94232247-T-C IDE c.2117-2145A>G - IntronicSNV - 17/24
9-107545903-G-A ABCA1 c.*693C>T - 3-UTRSNV 50/50 -
6-46683477-G-A PLA2G7 c.376+644C>T - IntronicSNV - 4/11
15-58844214-C-T LIPC c.1051+3443C>T - IntronicSNV - 6/8
12-57593894-A-G LRP1 c.10014+86A>G - IntronicSNV - 62/88
1-55538552-T-G USP24 c.7527-18A>C - IntronicSNV - 64/67
11-107977489-G-A CUL5 c.*2378G>A - 3-UTRSNV 19/19 -
11-107977489-G-C CUL5 c.*2378G>C - 3-UTRSNV 19/19 -
18-47097398-A-G LIPG c.571+1480A>G - IntronicSNV - 4/9
11-116691634-C-A APOA4 c.1140G>T p.Gln380His Missense 3/3 -
15-58831363-A-T LIPC c.273+647A>T - IntronicSNV - 2/8
7-73032265-G-C MLXIPL c.294-1758C>G - IntronicSNV - 1/16
11-47294626-T-C MADD c.1-840T>C - IntronicSNV - 1/32
7-136680801-A-C CHRM2 c.-47+3790A>C - intron_variant - 3/3
1-55525400-G-A PCSK9 c.1681+64G>A - IntronicSNV - 10/11
9-107678446-G-A ABCA1 c.-93+11770C>T - intron_variant - 1/49
8-19819077-T-G LPL c.1322+483T>G - IntronicSNV - 8/9
8-19811417-C-T LPL c.542-214C>T - IntronicSNV - 4/9
1-230371883-G-A GALNT2 c.473+25G>A - IntronicSNV - 4/15
8-19811901-T-C LPL c.775+37T>C - IntronicSNV - 5/9
6-32151994-A-T AGER c.6T>A p.Ala2Ala Synonymous 1/11 -
9-107598740-C-T ABCA1 c.1311+521G>A - IntronicSNV - 11/49
20-44539492-G-C PLTP c.200+299C>G - IntronicSNV - 3/15
5-74646255-T-A HMGCR c.780+56T>A - IntronicSNV - 8/19
15-58767425-C-T LIPC c.88+43106C>T - IntronicSNV - 1/8
7-136661400-G-A CHRM2 c.-124-15534G>A - intron_variant - 2/3
12-125341870-C-A SCARB1 c.126+6271G>T - IntronicSNV - 1/12
12-125284748-A-T SCARB1 c.1050T>A p.Ala350Ala Synonymous 8/13 -
11-108013093-A-G ACAT1 c.827-71A>G - IntronicSNV - 8/11
12-125341870-C-G SCARB1 c.126+6271G>C - IntronicSNV - 1/12
12-125284748-A-G SCARB1 c.1050T>C p.Ala350Ala Synonymous 8/13 -
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -
20-44540178-A-G PLTP c.1-87T>C - IntronicSNV - 1/15
12-125313426-C-T SCARB1 c.127-11173G>A - IntronicSNV - 1/12
1-230285056-G-A GALNT2 c.127-28908G>A - IntronicSNV - 1/15
22-42282012-C-T SREBF2 c.2208+997C>T - IntronicSNV - 11/18
20-44526783-G-A CTSA c.1413+35G>A - IntronicSNV - 14/14
14-100172729-T-G CYP46A1 c.444-255T>G - IntronicSNV - 5/14
9-107591478-G-A ABCA1 c.1893-59C>T - IntronicSNV - 14/49
15-58856033-T-C LIPC c.1388+111T>C - IntronicSNV - 8/8
1-55526296-A-C PCSK9 c.1682-752A>C - IntronicSNV - 10/11
15-58829894-A-G LIPC c.89-638A>G - IntronicSNV - 1/8
1-55526296-A-G PCSK9 c.1682-752A>G - IntronicSNV - 10/11
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
16-57005301-C-T CETP c.658+8C>T - IntronicSNV - 7/15
12-125328375-G-A SCARB1 c.126+19766C>T - IntronicSNV - 1/12
12-57602815-C-T LRP1 c.12146-51C>T - IntronicSNV - 78/88
1-20304962-C-G PLA2G2A c.96G>C p.Thr32Thr Synonymous 4/6 -
1-20304962-C-T PLA2G2A c.96G>A p.Thr32Thr Synonymous 4/6 -
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
11-108009660-C-G ACAT1 c.471C>G p.Ser157Ser Synonymous 6/12 -
11-108009660-C-A ACAT1 c.471C>A p.Ser157Ser Synonymous 6/12 -
1-55516004-C-A PCSK9 c.524-1947C>A - IntronicSNV - 3/11
1-55529828-C-T PCSK9 c.*571C>T - 3-UTRSNV 12/12 -
2-27857992-T-G GPN1 c.430-15T>G - intron_variant - 6/13
2-21251040-T-G APOB c.1830-103A>C - IntronicSNV - 13/28
6-160196343-A-G ACAT2 c.632A>G p.Lys211Arg Missense 5/9 -
1-55517344-C-T PCSK9 c.524-607C>T - IntronicSNV - 3/11
1-55517344-C-G PCSK9 c.524-607C>G - IntronicSNV - 3/11
9-107586753-T-C ABCA1 c.2649A>G p.Ile883Met Missense 18/50 -
22-42295250-C-G SREBF2 c.2738+465C>G - IntronicSNV - 15/18
20-44530838-G-C PLTP c.1175+68C>G - IntronicSNV - 12/15
20-44530838-G-T PLTP c.1175+68C>A - IntronicSNV - 12/15
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
11-116692334-C-T APOA4 c.440G>A p.Ser147Asn Missense 3/3 -
1-230398102-A-G GALNT2 c.1137-217A>G - IntronicSNV - 11/15
1-230398102-A-T GALNT2 c.1137-217A>T - IntronicSNV - 11/15
11-108004798-A-C ACAT1 c.238+134A>C - IntronicSNV - 3/11
12-125341870-C-T SCARB1 c.126+6271G>A - IntronicSNV - 1/12
6-46683382-A-G PLA2G7 c.376+739T>C - IntronicSNV - 4/11
9-107680458-C-G ABCA1 c.-93+9758G>C - intron_variant - 1/49
15-58735449-T-C LIPC c.88+11130T>C - IntronicSNV - 1/8
9-107680458-C-T ABCA1 c.-93+9758G>A - intron_variant - 1/49
12-125293597-T-C SCARB1 c.842+1123A>G - IntronicSNV - 6/12
1-230401634-G-T GALNT2 c.1440+521G>T - IntronicSNV - 14/15
16-57007192-T-C CETP c.751-51T>C - IntronicSNV - 8/15
9-107687104-C-A ABCA1 c.-93+3112G>T - intron_variant - 1/49
2-21240364-A-G APOB c.3122-843T>C - IntronicSNV - 20/28
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
1-230355248-C-G GALNT2 c.374+16212C>G - IntronicSNV - 3/15
11-27677041-C-T BDNF c.*2326G>A - 3_prime_UTR_variant 1/1 -
2-27721971-T-C GCKR c.429-38T>C - IntronicSNV - 5/18
11-47298201-C-T MADD c.964-82C>T - IntronicSNV - 4/32
17-17727943-T-C SREBF1 c.92-4108A>G - IntronicSNV - 1/18
17-17727943-T-A SREBF1 c.92-4108A>T - IntronicSNV - 1/18
15-58752734-C-A LIPC c.88+28415C>A - IntronicSNV - 1/8
12-57569478-C-T LRP1 c.3783C>T p.Cys1261Cys Synonymous 23/89 -
19-11206530-T-C LDLR c.68-4369T>C - IntronicSNV - 1/17
12-57602815-C-A LRP1 c.12146-51C>A - IntronicSNV - 78/88
12-125322995-G-C SCARB1 c.127-20742C>G - IntronicSNV - 1/12
1-109897103-A-C SORT1 c.594T>G p.Phe198Leu Missense 5/20 -
11-108014799-C-T ACAT1 c.1005+25C>T - IntronicSNV - 10/11
19-11224181-C-A LDLR c.1359-30C>A - IntronicSNV - 9/17
1-230398939-G-C GALNT2 c.1313+188G>C - IntronicSNV - 13/15
12-57525756-G-C LRP1 c.67+2942G>C - IntronicSNV - 1/88
19-11224181-C-T LDLR c.1359-30C>T - IntronicSNV - 9/17
1-230398445-G-A GALNT2 c.1229+34G>A - IntronicSNV - 12/15
8-19821815-T-G LPL c.-1-1006T>G - IntronicSNV - 9/9