PMID: 26096528

Apolipoprotein E and protection against hepatitis E viral infection in American non-Hispanic blacks.

Hepatology (Baltimore, Md.)
L Zhang, A Yesupriya, MH Chang, E Teshale, CG Teo
2015-11

518 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-160999040-G-A LPA c.4471+515C>T - IntronicSNV - 27/38
21-46629590-C-T ADARB1 c.1867+4939C>T - IntronicSNV - 10/11
1-110729404-C-T SLC6A17 c.865-5190C>T - IntronicSNV - 6/11
2-241531174-G-A CAPN10 c.471-176G>A - IntronicSNV - 3/11
19-44065388-C-T XRCC1 c.145-216G>A - IntronicSNV - 2/16
1-86283071-A-G COL24A1 c.3844-493T>C - IntronicSNV - 46/59
1-86283071-A-T COL24A1 c.3844-493T>A - IntronicSNV - 46/59
9-2626916-C-G VLDLR c.82+4645C>G - IntronicSNV - 1/18
20-47389100-G-A PREX1 c.220-24683C>T - IntronicSNV - 1/39
6-161069941-G-A LPA c.209+1429C>T - IntronicSNV - 2/38
6-161069941-G-T LPA c.209+1429C>A - IntronicSNV - 2/38
9-2635545-G-A VLDLR c.175G>A p.Val59Ile Missense 2/19 -
2-21245813-G-T APOB c.2706C>A p.Asn902Lys Missense 18/29 -
8-17143830-G-T VPS37A c.1114-26G>T - IntronicSNV - 10/11
6-160962503-T-C LPA c.5520-290A>G - IntronicSNV - 34/38
10-126828084-T-C CTBP2 c.-206+21312A>G - intron_variant - 1/10
10-3155237-A-T PFKP c.1155-74A>T - IntronicSNV - 11/21
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
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 -
9-2647760-A-G VLDLR c.1822+168A>G - IntronicSNV - 12/18
17-38080865-A-T ORMDL3 c.1-409T>A - IntronicSNV - 1/3
9-2652589-C-G VLDLR c.2417-191C>G - IntronicSNV - 17/18
9-2652589-C-T VLDLR c.2417-191C>T - IntronicSNV - 17/18
22-38115318-C-G TRIOBP c.628+3377C>G - IntronicSNV - 6/23
22-38115318-C-T TRIOBP c.628+3377C>T - IntronicSNV - 6/23
4-88023299-A-G AFF1 c.1263-3481A>G - IntronicSNV - 7/19
6-161008645-C-T LPA c.3948-983G>A - IntronicSNV - 24/38
6-161008645-C-A LPA c.3948-983G>T - IntronicSNV - 24/38
6-20180235-T-G MBOAT1 c.100-27235A>C - IntronicSNV - 1/12
9-28628500-T-C LINGO2 c.-365+41698A>G - intron_variant - 2/6
8-18257795-C-T NAT2 c.282C>T p.Tyr94Tyr Synonymous 2/2 -
2-21227383-C-G APOB c.11903+50G>C - IntronicSNV - 27/28
8-94935937-T-G PDP1 c.*36T>G - 3-UTRSNV 2/2 -
6-161007538-G-C LPA c.4072C>G p.Leu1358Val Missense 25/39 -
6-161016009-T-C LPA c.3469+377A>G - IntronicSNV - 21/38
6-20180786-C-T MBOAT1 c.100-27786G>A - IntronicSNV - 1/12
2-21263639-T-G APOB c.383+171A>C - IntronicSNV - 4/28
11-116660768-G-A APOA5 c.*76C>T - 3-UTRSNV 4/4 -
2-21260934-G-A APOB c.433C>T p.Pro145Ser Missense 5/29 -
2-21260934-G-C APOB c.433C>G p.Pro145Ala Missense 5/29 -
11-116658122-G-T ZPR1 c.333+76C>A - IntronicSNV - 2/13
2-216993611-C-A XRCC5 c.937+1214C>A - IntronicSNV - 8/20
16-20359831-C-A UMOD c.792G>T p.Val264Val Synonymous 3/11 -
2-21245329-G-T APOB c.2816+374C>A - IntronicSNV - 18/28
3-186573705-A-C ADIPOQ c.*1212A>C - 3-UTRSNV 3/3 -
9-2654419-T-C VLDLR c.*551T>C - 3-UTRSNV 19/19 -
8-94931872-G-A PDP1 c.1-2416G>A - IntronicSNV - 1/1
6-20659806-T-C CDKAL1 c.371+10198T>C - IntronicSNV - 5/15
9-2628433-T-C VLDLR c.82+6162T>C - IntronicSNV - 1/18
17-3445901-T-A TRPV3 c.558A>T p.Ile186Ile Synonymous 6/18 -
17-3445901-T-C TRPV3 c.558A>G p.Ile186Met Missense 6/18 -
12-26756606-C-T ITPR2 c.3463-967G>A - IntronicSNV - 26/56
4-186526185-T-C SORBS2 c.1782+6749A>G - IntronicSNV - 20/22
6-33540692-T-C BAK1 c.*888A>G - 3-UTRSNV 6/6 -
9-2645557-A-T VLDLR c.1313-17A>T - IntronicSNV - 9/18
16-27356203-A-G IL4R c.223A>G p.Ile75Val Missense 5/11 -
10-79023182-A-G KCNMA1 c.541-12168T>C - IntronicSNV - 2/26
9-123780005-G-A C5 c.1632C>T p.Tyr544Tyr Synonymous 13/41 -
11-18472133-G-A LDHC c.835-377G>A - IntronicSNV - 7/7
1-171896950-T-C DNM3 c.235+5989T>C - IntronicSNV - 2/20
3-118941235-A-G B4GALT4 c.674+1670T>C - IntronicSNV - 5/7
6-20657564-A-G CDKAL1 c.371+7956A>G - IntronicSNV - 5/15
8-41549194-T-C ANK1 c.3858+972A>G - IntronicSNV - 31/41
1-91785202-G-T HFM1 c.2583-255C>A - IntronicSNV - 23/38
2-55055288-C-G EML6 c.711+400C>G - IntronicSNV - 5/40
1-91785202-G-A HFM1 c.2583-255C>T - IntronicSNV - 23/38
14-64564527-C-T SYNE2 c.12109-140C>T - IntronicSNV - 61/115
1-208295783-T-A PLXNA2 c.1507-19191A>T - IntronicSNV - 4/31
2-55055288-C-A EML6 c.711+400C>A - IntronicSNV - 5/40
6-132174429-C-A ENPP1 c.617+1054C>A - IntronicSNV - 5/24
6-132174429-C-G ENPP1 c.617+1054C>G - IntronicSNV - 5/24
9-107635869-C-T ABCA1 c.421+9451G>A - IntronicSNV - 5/49
9-2635116-G-T VLDLR c.83-337G>T - IntronicSNV - 1/18
1-159683099-G-T CRP c.*216C>A - 3-UTRSNV 2/2 -
19-11234327-C-A LDLR c.2311+307C>A - IntronicSNV - 15/17
19-11234327-C-T LDLR c.2311+307C>T - IntronicSNV - 15/17
2-31464829-A-G EHD3 c.228-2311A>G - IntronicSNV - 1/5
7-44223721-G-A GCK c.45+4787C>T - IntronicSNV - 1/9
2-21246306-G-C APOB c.2604+91C>G - IntronicSNV - 17/28
2-21228827-C-T APOB c.10913G>A p.Arg3638Gln Missense 26/29 -
9-2632250-C-A VLDLR c.83-3203C>A - IntronicSNV - 1/18
9-2638113-C-G VLDLR c.203-1746C>G - IntronicSNV - 2/18
5-132014109-A-G IL4 c.184-1297A>G - IntronicSNV - 2/3
9-2644874-T-C VLDLR c.1186+21T>C - IntronicSNV - 8/18
11-18439212-A-G LDHC c.244+2364A>G - IntronicSNV - 3/7
10-75300994-G-A USP54 c.825+139C>T - IntronicSNV - 7/21
5-132014109-A-T IL4 c.184-1297A>T - IntronicSNV - 2/3
11-116701850-T-A APOC3 c.179+238T>A - IntronicSNV - 3/3
6-20180235-T-A MBOAT1 c.100-27235A>T - IntronicSNV - 1/12
4-99828368-A-G EIF4E c.19-5235T>C - IntronicSNV - 1/6
1-159684186-T-C CRP c.61+29A>G - IntronicSNV - 1/1
1-159684186-T-A CRP c.61+29A>T - IntronicSNV - 1/1
11-116691634-C-A APOA4 c.1140G>T p.Gln380His Missense 3/3 -
11-18419806-A-G LDHA c.127-1172A>G - IntronicSNV - 2/7
6-161007538-G-T LPA c.4072C>A p.Leu1358Ile Missense 25/39 -
10-3155237-A-G PFKP c.1155-74A>G - IntronicSNV - 11/21
6-132174929-G-C ENPP1 c.618-1137G>C - IntronicSNV - 5/24
10-114788815-T-C TCF7L2 c.382-10969T>C - IntronicSNV - 3/13
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
9-2627954-C-G VLDLR c.82+5683C>G - IntronicSNV - 1/18
2-21264937-T-C APOB c.237+296A>G - IntronicSNV - 3/28
9-2623698-G-A VLDLR c.82+1427G>A - IntronicSNV - 1/18
2-21264937-T-G APOB c.237+296A>C - IntronicSNV - 3/28
4-120241902-T-G FABP2 c.163A>C p.Thr55Pro Missense 2/4 -
11-116693213-G-A APOA4 c.176+162C>T - IntronicSNV - 2/2
4-6292818-C-G WFS1 c.461-106C>G - IntronicSNV - 4/7
4-6292818-C-A WFS1 c.461-106C>A - IntronicSNV - 4/7
11-18438330-C-T LDHC c.244+1482C>T - IntronicSNV - 3/7
9-2629324-C-T VLDLR c.83-6129C>T - IntronicSNV - 1/18
8-10240202-G-C MSRA c.544-45456G>C - IntronicSNV - 5/5
5-52347369-C-T ITGA2 c.759C>T p.Phe253Phe Synonymous 7/30 -
8-10240202-G-T MSRA c.544-45456G>T - IntronicSNV - 5/5
11-2182224-A-T INS c.1-23T>A - IntronicSNV - 1/2
16-69752464-C-T NQO1 c.8-27G>A - IntronicSNV - 1/5
16-69752464-C-A NQO1 c.8-27G>T - IntronicSNV - 1/5
16-69752464-C-G NQO1 c.8-27G>C - IntronicSNV - 1/5
7-44223942-G-A GCK c.45+4566C>T - IntronicSNV - 1/9
19-44055898-C-T XRCC1 c.1083-59G>A - IntronicSNV - 9/16
9-2632447-T-C VLDLR c.83-3006T>C - IntronicSNV - 1/18
10-126846214-A-T CTBP2 c.-206+3182T>A - intron_variant - 1/10
17-36096515-T-C HNF1B c.545-2701A>G - IntronicSNV - 2/8
17-36096515-T-G HNF1B c.545-2701A>C - IntronicSNV - 2/8
2-227659583-G-C IRS1 c.*143C>G - IntronicSNV - 1/1
9-2636161-C-T VLDLR c.202+589C>T - IntronicSNV - 2/18
11-18466247-C-G LDHC c.711-1510C>G - IntronicSNV - 6/7
8-17143830-G-C VPS37A c.1114-26G>C - IntronicSNV - 10/11
11-18466247-C-T LDHC c.711-1510C>T - IntronicSNV - 6/7
8-17143830-G-A VPS37A c.1114-26G>A - IntronicSNV - 10/11
9-86051269-A-C FRMD3 c.148-46646T>G - IntronicSNV - 1/13
4-155492224-A-C FGB c.*422A>C - 3-UTRSNV 8/8 -
11-2857194-A-T KCNQ1 c.1795-11803A>T - IntronicSNV - 15/15
11-2857194-A-C KCNQ1 c.1795-11803A>C - IntronicSNV - 15/15
1-231488524-C-T SPRTN c.887C>T p.Pro296Leu Missense 5/5 -
9-2624433-A-G VLDLR c.82+2162A>G - IntronicSNV - 1/18
4-100263965-C-T ADH1C c.815G>A p.Arg272Gln Missense 6/9 -
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
9-2633396-C-G VLDLR c.83-2057C>G - IntronicSNV - 1/18
19-11205975-G-A LDLR c.68-4924G>A - IntronicSNV - 1/17
19-11205975-G-C LDLR c.68-4924G>C - IntronicSNV - 1/17
11-119028813-C-A ABCG4 c.1069-131C>A - IntronicSNV - 9/14
11-119028813-C-G ABCG4 c.1069-131C>G - IntronicSNV - 9/14
9-2634646-A-T VLDLR c.83-807A>T - IntronicSNV - 1/18
10-114893489-C-T TCF7L2 c.484-7454C>T - IntronicSNV - 4/13
5-35862841-C-T IL7R c.221+1749C>T - IntronicSNV - 2/7
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
6-161019866-A-G LPA c.3287+666T>C - IntronicSNV - 20/38
8-94935937-T-C PDP1 c.*36T>C - 3-UTRSNV 2/2 -
19-41515263-A-G CYP2B6 c.785A>G p.Lys262Arg Missense 5/9 -
19-41522715-C-A CYP2B6 c.1459C>A p.Arg487Ser Missense 9/9 -
19-41522715-C-T CYP2B6 c.1459C>T p.Arg487Cys Missense 9/9 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
2-21227528-G-A APOB c.11808C>T p.Ile3936Ile Synonymous 27/29 -
11-18421683-C-A LDHA c.244+588C>A - IntronicSNV - 3/7
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
16-67997920-T-C SLC12A4 c.116-458A>G - IntronicSNV - 1/23
4-17526682-A-C CLRN2 c.434-1758A>C - IntronicSNV - 2/2
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
9-2629776-G-A VLDLR c.83-5677G>A - IntronicSNV - 1/18
9-2629776-G-C VLDLR c.83-5677G>C - IntronicSNV - 1/18
2-38298150-A-G CYP1B1 c.1347T>C p.Asp449Asp Synonymous 3/3 -
2-38298150-A-T CYP1B1 c.1347T>A p.Asp449Glu Missense 3/3 -
17-67235705-G-A ABCA10 c.-593+4965C>T - intron_variant - 1/39
11-116692334-C-T APOA4 c.440G>A p.Ser147Asn Missense 3/3 -
19-11163562-C-T SMARCA4 c.4425-5369C>T - IntronicSNV - 30/34
19-11228965-C-A LDLR c.1845+1291C>A - IntronicSNV - 12/17
2-21233999-T-C APOB c.5741A>G p.Asn1914Ser Missense 26/29 -
2-124998364-G-T CNTNAP5 c.188-1413G>T - IntronicSNV - 2/23
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
2-21229039-C-T APOB c.10701G>A p.Thr3567Thr Synonymous 26/29 -
2-21229039-C-A APOB c.10701G>T p.Thr3567Thr Synonymous 26/29 -
7-133335176-T-G EXOC4 c.1514+20282T>G - IntronicSNV - 10/17
7-133335176-T-A EXOC4 c.1514+20282T>A - IntronicSNV - 10/17
2-230493684-C-A DNER c.277-37080G>T - IntronicSNV - 1/12
5-110408002-C-T TSLP c.171+243C>T - IntronicSNV - 1/3
6-161082695-T-C LPA c.49+2503A>G - IntronicSNV - 1/38
17-38082807-T-C ORMDL3 c.-23+930A>G - intron_variant - 1/3
2-102957716-C-T IL1RL1 c.610+428C>T - IntronicSNV - 5/10
17-38080865-A-G ORMDL3 c.1-409T>C - IntronicSNV - 1/3
18-43153949-T-C SLC14A2 c.1-50681T>C - IntronicSNV - 2/20
1-44801689-T-G ERI3 c.489+3028A>C - IntronicSNV - 3/8
5-77692819-C-T SCAMP1 c.135+8081C>T - IntronicSNV - 2/9
7-133335176-T-C EXOC4 c.1514+20282T>C - IntronicSNV - 10/17
11-116692694-G-A APOA4 c.177-97C>T - IntronicSNV - 2/2
10-104846178-T-C CNNM2 c.*9241T>C - IntergenicSNV 8/8 -
9-2624874-C-T VLDLR c.82+2603C>T - IntronicSNV - 1/18
11-18416615-A-C LDHA c.-25+432A>C - intron_variant - 1/7
2-21230736-G-A APOB c.9004C>T p.Leu3002Leu Synonymous 26/29 -
14-69965169-T-C PLEKHD1 c.150-1663T>C - IntronicSNV - 1/12
22-24582739-G-A SUSD2 c.1642+356G>A - IntronicSNV - 10/14
4-82375936-T-C RASGEF1B c.438+1869A>G - IntronicSNV - 4/13
19-11206575-G-A LDLR c.68-4324G>A - IntronicSNV - 1/17
11-116700860-C-T APOC3 c.-14+204C>T - intron_variant - 1/3
9-2635116-G-A VLDLR c.83-337G>A - IntronicSNV - 1/18
17-73782191-T-C UNK c.104+1126T>C - IntronicSNV - 1/15
11-116701535-T-C APOC3 c.102T>C p.Gly34Gly Synonymous 3/4 -
2-227651967-A-T IRS1 c.*7759T>A - IntronicSNV - 1/1
3-30710243-A-G TGFBR2 c.530-2887A>G - IntronicSNV - 4/7
10-115804036-A-G ADRB1 c.145A>G p.Ser49Gly Missense 1/1 -
2-21264937-T-A APOB c.237+296A>T - IntronicSNV - 3/28
12-21802055-G-A LDHB c.130-2105C>T - IntronicSNV - 2/7
4-17526682-A-G CLRN2 c.434-1758A>G - IntronicSNV - 2/2
9-2635116-G-C VLDLR c.83-337G>C - IntronicSNV - 1/18
1-10799577-T-C CASZ1 c.-77+21181A>G - intron_variant - 2/15
9-2636161-C-G VLDLR c.202+589C>G - IntronicSNV - 2/18
13-32711703-C-T FRY c.1179+594C>T - IntronicSNV - 11/60
9-2625172-T-G VLDLR c.82+2901T>G - IntronicSNV - 1/18
9-2625172-T-C VLDLR c.82+2901T>C - IntronicSNV - 1/18
19-11226800-C-T LDLR c.1617C>T p.Pro539Pro Synonymous 11/18 -
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
6-132174429-C-T ENPP1 c.617+1054C>T - IntronicSNV - 5/24
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
19-7742802-T-C MCEMP1 c.185-188T>C - IntronicSNV - 2/6
19-7742802-T-G MCEMP1 c.185-188T>G - IntronicSNV - 2/6
2-43732823-T-C THADA c.3559A>G p.Thr1187Ala Missense 24/38 -
11-116660450-A-G APOA5 c.*394T>C - 3-UTRSNV 4/4 -
7-44248828-G-A YKT6 c.459+1031G>A - IntronicSNV - 5/6
7-44248828-G-C YKT6 c.459+1031G>C - IntronicSNV - 5/6
16-69752373-C-T NQO1 c.72G>A p.Glu24Glu Synonymous 2/6 -
1-175296448-T-C TNR c.3793+2762A>G - IntronicSNV - 21/22
3-133484029-G-A TF c.1330+278G>A - IntronicSNV - 11/16
9-104362937-A-G GRIN3A c.2766+12721T>C - IntronicSNV - 6/8
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
21-35821680-C-T KCNE1 c.253G>A p.Asp85Asn Missense 4/4 -
3-186573705-A-G ADIPOQ c.*1212A>G - 3-UTRSNV 3/3 -
6-20662966-C-G CDKAL1 c.371+13358C>G - IntronicSNV - 5/15
6-20662966-C-T CDKAL1 c.371+13358C>T - IntronicSNV - 5/15
7-56118293-C-T PSPH c.-292+538G>A - intron_variant - 1/7
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
11-47663049-A-G MTCH2 c.87+882T>C - IntronicSNV - 1/12
9-2624104-A-T VLDLR c.82+1833A>T - IntronicSNV - 1/18
15-90137325-A-T TICRR c.1542-321A>T - IntronicSNV - 5/21
1-205235990-G-A TMCC2 c.748-2088G>A - IntronicSNV - 2/4
15-90137325-A-G TICRR c.1542-321A>G - IntronicSNV - 5/21
22-44332570-G-A PNPLA3 c.758-361G>A - IntronicSNV - 5/8
2-153282226-C-T FMNL2 c.117+89992C>T - IntronicSNV - 1/25
16-69743760-A-T NQO1 c.*1119T>A - 3-UTRSNV 6/6 -
9-136909261-C-G BRD3 c.1215+1154G>C - IntronicSNV - 7/11
9-136909261-C-A BRD3 c.1215+1154G>T - IntronicSNV - 7/11
1-11863057-G-C MTHFR c.117C>G p.Pro39Pro Synonymous 2/12 -
11-57893374-T-C OR9Q1 c.1-53543T>C - IntronicSNV - 2/2
4-155484511-G-A FGB c.114+227G>A - IntronicSNV - 1/7
16-31343386-A-G ITGAM c.*358A>G - 3-UTRSNV 30/30 -
4-155491759-G-A FGB c.1433G>A p.Arg478Lys Missense 8/8 -
11-84391899-T-C DLG2 c.43-146125A>G - IntronicSNV - 1/22
2-21225485-C-T APOB c.12809G>A p.Arg4270Lys Missense 29/29 -
11-68201295-C-T LRP5 c.3989C>T p.Ala1330Val Missense 18/23 -
9-2626703-G-T VLDLR c.82+4432G>T - IntronicSNV - 1/18
9-136909261-C-T BRD3 c.1215+1154G>A - IntronicSNV - 7/11
2-21241505-A-G APOB c.3121+359T>C - IntronicSNV - 20/28
8-18258316-G-A NAT2 c.803G>A p.Arg268Lys Missense 2/2 -
8-18258316-G-T NAT2 c.803G>T p.Arg268Ile Missense 2/2 -
5-110407507-C-T TSLP c.1-82C>T - 5-UTRSNV 1/4 -
8-118185733-A-G SLC30A8 c.*813A>G - 3-UTRSNV 8/8 -
4-155510276-C-T FGA c.181-148G>A - IntronicSNV - 2/5
4-155507590-T-C FGA c.991A>G p.Thr331Ala Missense 5/6 -
4-155507590-T-A FGA c.991A>T p.Thr331Ser Missense 5/6 -
7-94946084-A-C PON1 c.163T>G p.Leu55Val Missense 3/9 -
9-2651714-T-G VLDLR c.2336-160T>G - IntronicSNV - 16/18
4-9935910-A-G SLC2A9 c.727+7627T>C - IntronicSNV - 7/12
19-11241915-A-G LDLR c.2548-42A>G - IntronicSNV - 17/17
6-161082461-T-C LPA c.49+2737A>G - IntronicSNV - 1/38
2-29538411-G-A ALK c.1647+2759C>T - IntronicSNV - 8/28
2-207990038-A-C KLF7 c.103-910T>G - IntronicSNV - 1/3
22-37462936-A-T TMPRSS6 c.2207T>A p.Val736Asp Missense 17/18 -
3-7155702-T-A GRM7 c.520-32437T>A - IntronicSNV - 1/9
3-7155702-T-G GRM7 c.520-32437T>G - IntronicSNV - 1/9
16-53818460-G-T FTO c.46-25592G>T - IntronicSNV - 1/8
9-2631738-A-G VLDLR c.83-3715A>G - IntronicSNV - 1/18
19-46181392-G-C GIPR c.1060G>C p.Glu354Gln Missense 12/14 -
2-21225753-C-A APOB c.12541G>T p.Glu4181* Nonsense 29/29 -
17-3445901-T-G TRPV3 c.558A>C p.Ile186Ile Synonymous 6/18 -
19-19336608-C-T NCAN c.1072+529C>T - IntronicSNV - 6/14
4-77368847-G-A SHROOM3 c.168+11474G>A - IntronicSNV - 1/10
16-20359831-C-T UMOD c.792G>A p.Val264Val Synonymous 3/11 -
4-100228945-T-C ADH1B c.*52A>G - 3-UTRSNV 9/9 -
16-27356203-A-T IL4R c.223A>T p.Ile75Phe Missense 5/11 -
2-21260601-G-A APOB c.537+229C>T - IntronicSNV - 5/28
10-126846214-A-G CTBP2 c.-206+3182T>C - intron_variant - 1/10
10-126846214-A-C CTBP2 c.-206+3182T>G - intron_variant - 1/10
2-21251800-T-C APOB c.1618-390A>G - IntronicSNV - 12/28
16-27356203-A-C IL4R c.223A>C p.Ile75Leu Missense 5/11 -
19-41860587-C-T B9D2 c.*18G>A - 3-UTRSNV 4/4 -
8-133441144-C-A KCNQ3 c.386+51250G>T - IntronicSNV - 1/14
11-116701850-T-C APOC3 c.179+238T>C - IntronicSNV - 3/3
2-21259562-T-C APOB c.693+410A>G - IntronicSNV - 6/28
1-159272060-T-C FCER1A c.1-95T>C - IntronicSNV - 2/6
4-9966380-A-G SLC2A9 c.594+15836T>C - IntronicSNV - 6/12
15-75012985-T-A CYP1A1 c.1384A>T p.Ile462Phe Missense 7/7 -
3-123094451-T-C ADCY5 c.1135-23023A>G - IntronicSNV - 1/20
15-75012985-T-G CYP1A1 c.1384A>C p.Ile462Leu Missense 7/7 -
9-2628433-T-G VLDLR c.82+6162T>G - IntronicSNV - 1/18
9-2628433-T-A VLDLR c.82+6162T>A - IntronicSNV - 1/18
15-78806023-T-C HYKK c.337+256T>C - IntronicSNV - 2/4
2-21250914-G-A APOB c.1853C>T p.Ala618Val Missense 14/29 -
17-45360730-T-C ITGB3 c.176T>C p.Leu59Pro Missense 3/15 -
4-120241902-T-A FABP2 c.163A>T p.Thr55Ser Missense 2/4 -
4-120241902-T-C FABP2 c.163A>G p.Thr55Ala Missense 2/4 -
9-96830635-C-T PTPDC1 c.82+3532C>T - IntronicSNV - 2/9
16-58622178-G-A CNOT1 c.211-396C>T - IntronicSNV - 3/48
12-26756606-C-G ITPR2 c.3463-967G>C - IntronicSNV - 26/56
11-116661826-T-C APOA5 c.162-43A>G - IntronicSNV - 3/3
11-99493173-C-G CNTN5 c.55+66173C>G - IntronicSNV - 3/24
4-155505291-G-A FGA c.2586C>T p.Pro862Pro Synonymous 6/6 -
4-155504948-G-A FGA c.*328C>T - 3-UTRSNV 6/6 -
15-33653543-G-A RYR3 c.51+50246G>A - IntronicSNV - 1/103
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
9-2645201-C-G VLDLR c.1312+119C>G - IntronicSNV - 9/18
2-21225485-C-G APOB c.12809G>C p.Arg4270Thr Missense 29/29 -
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
9-2626977-C-G VLDLR c.82+4706C>G - IntronicSNV - 1/18
11-116662331-G-T APOA5 c.132C>A p.Ile44Ile Synonymous 3/4 -
9-107635869-C-G ABCA1 c.421+9451G>C - IntronicSNV - 5/49
11-116691675-T-C APOA4 c.1099A>G p.Thr367Ala Missense 3/3 -
2-230493684-C-G DNER c.277-37080G>C - IntronicSNV - 1/12
11-116691675-T-A APOA4 c.1099A>T p.Thr367Ser Missense 3/3 -
20-3650694-C-T ADAM33 c.2241-410G>A - IntronicSNV - 19/21
17-9969493-A-G GAS7 c.184-46279T>C - IntronicSNV - 1/13
4-100260789-T-C ADH1C c.1048A>G p.Ile350Val Missense 8/9 -
12-66359752-C-A HMGA2 c.*2680C>A - 3-UTRSNV 5/5 -
4-100260789-T-A ADH1C c.1048A>T p.Ile350Phe Missense 8/9 -
11-18456181-A-T LDHC c.419-106A>T - IntronicSNV - 4/7
11-18456181-A-G LDHC c.419-106A>G - IntronicSNV - 4/7
20-10639543-G-A JAG1 c.440-173C>T - IntronicSNV - 3/25
18-47093790-C-A LIPG c.280-22C>A - IntronicSNV - 2/9
18-47093790-C-T LIPG c.280-22C>T - IntronicSNV - 2/9
4-6293350-T-C WFS1 c.631+256T>C - IntronicSNV - 5/7
2-21232373-G-T APOB c.7367C>A p.Ala2456Asp Missense 26/29 -
11-116707338-A-G APOA1 c.201-211T>C - IntronicSNV - 3/3
22-38144235-C-T TRIOBP c.5323-3544C>T - IntronicSNV - 11/23
2-21244358-T-G APOB c.2816+1345A>C - IntronicSNV - 18/28
17-38069949-C-T GSDMB c.236-1199G>A - IntronicSNV - 1/7
1-186149032-G-A HMCN1 c.16294+1134G>A - IntronicSNV - 104/106
13-108124321-T-C FAM155A c.916-261218A>G - IntronicSNV - 1/2
9-86059732-C-T FRMD3 c.148-55109G>A - IntronicSNV - 1/13
4-100229017-G-A ADH1B c.1108C>T p.Arg370Cys Missense 9/9 -
8-10797831-G-C XKR6 c.765-15491C>G - IntronicSNV - 1/2
16-53816838-G-A FTO c.46-27214G>A - IntronicSNV - 1/8
3-143250070-T-C SLC9A9 c.1089+21134A>G - IntronicSNV - 9/15
15-62332980-A-T VPS13C c.187+543T>A - IntronicSNV - 3/82
12-121416864-C-T HNF1A c.293C>T p.Ala98Val Missense 1/10 -
15-62332980-A-G VPS13C c.187+543T>C - IntronicSNV - 3/82
8-28941305-C-T KIF13B c.4459-8445G>A - IntronicSNV - 37/39
3-135914476-G-A MSL2 c.1-521C>T - 5-UTRSNV 1/2 -
1-216552367-C-T USH2A c.652-13940G>A - IntronicSNV - 3/20
22-37485724-T-C TMPRSS6 c.757A>G p.Lys253Glu Missense 7/18 -
5-174868700-G-C DRD1 c.*62C>G - 3-UTRSNV 2/2 -
5-174868700-G-T DRD1 c.*62C>A - 3-UTRSNV 2/2 -
5-174868700-G-A DRD1 c.*62C>T - 3-UTRSNV 2/2 -
2-21245813-G-A APOB c.2706C>T p.Asn902Asn Synonymous 18/29 -
16-31340997-C-T ITGAM c.2869-122C>T - IntronicSNV - 24/29
17-58040730-T-C RNFT1 c.57-85A>G - IntronicSNV - 1/8
10-135348544-T-A CYP2E1 c.967+1143T>A - IntronicSNV - 6/8
2-21249682-G-T APOB c.2222C>A p.Thr741Asn Missense 15/29 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
17-38080912-G-A ORMDL3 c.1-456C>T - IntronicSNV - 1/3
17-38080912-G-C ORMDL3 c.1-456C>G - IntronicSNV - 1/3
17-43208121-A-T PLCD3 c.163+1494T>A - IntronicSNV - 1/15
16-28883241-A-T SH2B1 c.1450A>T p.Thr484Ser Missense 5/9 -
16-28883241-A-G SH2B1 c.1450A>G p.Thr484Ala Missense 5/9 -
9-2631932-C-T VLDLR c.83-3521C>T - IntronicSNV - 1/18
8-18257704-G-A NAT2 c.191G>A p.Arg64Gln Missense 2/2 -
16-87868527-C-T SLC7A5 c.1291-330G>A - IntronicSNV - 8/9
16-87868527-C-A SLC7A5 c.1291-330G>T - IntronicSNV - 8/9
19-11214533-T-G LDLR c.313+1071T>G - IntronicSNV - 3/17
9-2641107-T-A VLDLR c.326-270T>A - IntronicSNV - 3/18
19-11214533-T-A LDLR c.313+1071T>A - IntronicSNV - 3/17
19-11242496-G-A LDLR c.*504G>A - 3-UTRSNV 18/18 -
6-161022423-T-C LPA c.2946-293A>G - IntronicSNV - 18/38
6-161022423-T-G LPA c.2946-293A>C - IntronicSNV - 18/38
13-32710520-G-T FRY c.1078-488G>T - IntronicSNV - 10/60
13-32710520-G-C FRY c.1078-488G>C - IntronicSNV - 10/60
1-217837425-G-A SPATA17 c.241-4950G>A - IntronicSNV - 3/10
16-27374180-T-C IL4R c.1507T>C p.Ser503Pro Missense 11/11 -
2-21262190-C-T APOB c.384-1207G>A - IntronicSNV - 4/28
7-121754695-C-T AASS c.1043+433G>A - IntronicSNV - 9/23
1-217837425-G-C SPATA17 c.241-4950G>C - IntronicSNV - 3/10
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
11-116693095-G-A APOA4 c.176+280C>T - IntronicSNV - 2/2
1-29147338-C-T OPRD1 c.227+8216C>T - IntronicSNV - 1/2
10-44868083-A-T CXCL12 c.*693T>A - 3-UTRSNV 4/4 -
1-11863057-G-A MTHFR c.117C>T p.Pro39Pro Synonymous 2/12 -
6-51611470-T-C PKHD1 c.9998+49A>G - IntronicSNV - 59/66
11-45873091-A-C CRY2 c.215+3835A>C - intron_variant - 1/11
10-44868083-A-G CXCL12 c.*693T>C - 3-UTRSNV 4/4 -
10-44868083-A-C CXCL12 c.*693T>G - 3-UTRSNV 4/4 -
4-41554364-G-A LIMCH1 c.237+27869G>A - IntronicSNV - 3/26
19-11242658-T-C LDLR c.*666T>C - 3-UTRSNV 18/18 -
11-18435700-C-T LDHC c.127-1031C>T - IntronicSNV - 2/7
9-2626851-G-A VLDLR c.82+4580G>A - IntronicSNV - 1/18
15-62347885-C-T VPS13C c.100+4589G>A - IntronicSNV - 1/82
19-11242658-T-A LDLR c.*666T>A - 3-UTRSNV 18/18 -
19-44055898-C-G XRCC1 c.1083-59G>C - IntronicSNV - 9/16
2-179606538-G-A TTN c.10361-3451C>T - IntronicSNV - 45/311
8-99479712-A-G STK3 c.1318-11484T>C - IntronicSNV - 10/10
12-48244559-G-A VDR c.756-3968C>T - IntronicSNV - 7/9
19-46182304-T-A GIPR c.1152+820T>A - IntronicSNV - 12/13
12-90013089-T-G ATP2B1 c.1829+687A>C - IntronicSNV - 11/20
7-103527369-C-A RELN c.337+30153G>T - IntronicSNV - 2/64
17-48452756-T-C EME1 c.187T>C p.Phe63Leu Missense 2/9 -
22-37485193-T-C TMPRSS6 c.863+425A>G - IntronicSNV - 7/17
6-161084156-A-G LPA c.49+1042T>C - IntronicSNV - 1/38
6-51611470-T-A PKHD1 c.9998+49A>T - IntronicSNV - 59/66
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
2-241534241-241534242---GATGATTCTGTCCCAGGAGCCGGGAGGAGGGT CAPN10 c.997+136_998-148dup - intron_variant - 6/11
12-90013089-T-C ATP2B1 c.1829+687A>G - IntronicSNV - 11/20
9-2627365-T-A VLDLR c.82+5094T>A - IntronicSNV - 1/18
7-103527369-C-T RELN c.337+30153G>A - IntronicSNV - 2/64
9-2633548-T-C VLDLR c.83-1905T>C - IntronicSNV - 1/18
19-11215846-T-C LDLR c.314-50T>C - IntronicSNV - 3/17
9-2640492-A-G VLDLR c.325+511A>G - IntronicSNV - 3/18
9-2638113-C-T VLDLR c.203-1746C>T - IntronicSNV - 2/18
6-20661529-G-A CDKAL1 c.371+11921G>A - IntronicSNV - 5/15
4-155525970-G-A FGG c.*16C>T - 3-UTRSNV 9/9 -
5-35875593-A-T IL7R c.801-21A>T - IntronicSNV - 6/7
19-19610596-C-G GATAD2A c.1204+1065C>G - IntronicSNV - 8/11
8-37823798-A-G ADRB3 c.190T>C p.Trp64Arg Missense 1/2 -
19-19610596-C-T GATAD2A c.1204+1065C>T - IntronicSNV - 8/11
2-115203917-C-T DPP10 c.60+3502C>T - IntronicSNV - 1/25
1-208309775-G-T PLXNA2 c.1506+5899C>A - IntronicSNV - 4/31
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
1-208309775-G-A PLXNA2 c.1506+5899C>T - IntronicSNV - 4/31
2-161171454-T-C RBMS1 c.311-1696A>G - IntronicSNV - 3/13
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
4-155505291-G-C FGA c.2586C>G p.Pro862Pro Synonymous 6/6 -
4-155505291-G-T FGA c.2586C>A p.Pro862Pro Synonymous 6/6 -
3-2654691-A-T CNTN4 c.55+41449A>T - IntronicSNV - 3/23
2-142618914-T-C LRP1B c.83-50944A>G - IntronicSNV - 1/90
8-10797831-G-A XKR6 c.765-15491C>T - IntronicSNV - 1/2
19-44056412-C-G XRCC1 c.839G>C p.Arg280Pro Missense 9/17 -
6-160960359-T-C LPA c.5735+716A>G - IntronicSNV - 36/38
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
2-21225753-C-T APOB c.12541G>A p.Glu4181Lys Missense 29/29 -
11-116693464-C-G APOA4 c.87G>C p.Thr29Thr Synonymous 2/3 -
10-98855465-G-A SLIT1 c.414-29622C>T - IntronicSNV - 4/36
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
1-31506004-T-C PUM1 c.364-4293A>G - IntronicSNV - 2/21
9-2639533-A-G VLDLR c.203-326A>G - IntronicSNV - 2/18
11-116693464-C-T APOA4 c.87G>A p.Thr29Thr Synonymous 2/3 -
9-2653719-C-G VLDLR c.2587-114C>G - IntronicSNV - 18/18
9-2653719-C-A VLDLR c.2587-114C>A - IntronicSNV - 18/18
9-2653719-C-T VLDLR c.2587-114C>T - IntronicSNV - 18/18
2-21246207-A-G APOB c.2604+190T>C - IntronicSNV - 17/28
6-161012270-C-T LPA c.3630-137G>A - IntronicSNV - 22/38
17-80685533-C-T FN3KRP c.*486C>T - 3-UTRSNV 6/6 -
6-33540692-T-A BAK1 c.*888A>T - 3-UTRSNV 6/6 -
16-69743760-A-G NQO1 c.*1119T>C - 3-UTRSNV 6/6 -
6-33540692-T-G BAK1 c.*888A>C - 3-UTRSNV 6/6 -
19-11242307-G-C LDLR c.*315G>C - 3-UTRSNV 18/18 -
15-75017176-C-A CYP1A1 c.-27+606G>T - intron_variant - 1/6
11-47336320-A-T MADD c.3961-451A>T - IntronicSNV - 26/32
3-118948171-A-G B4GALT4 c.253+523T>C - IntronicSNV - 3/7
15-45698793-T-G SPATA5L1 c.1275+1090T>G - IntronicSNV - 2/7
3-170717521-T-A SLC2A2 c.1069-566A>T - IntronicSNV - 8/10
2-38298203-C-G CYP1B1 c.1294G>C p.Val432Leu Missense 3/3 -
15-45698793-T-A SPATA5L1 c.1275+1090T>A - IntronicSNV - 2/7
9-120130206-T-C ASTN2 c.442+46569A>G - IntronicSNV - 1/21
8-65495333-G-A BHLHE22 c.*840G>A - 3-UTRSNV 1/1 -
6-20661529-G-T CDKAL1 c.371+11921G>T - IntronicSNV - 5/15
9-2624276-C-T VLDLR c.82+2005C>T - IntronicSNV - 1/18
19-11238239-C-G LDLR c.2312-445C>G - IntronicSNV - 15/17
16-56919348-C-A SLC12A3 c.1925+72C>A - IntronicSNV - 15/25
6-152419079-A-G ESR1 c.1554-788A>G - IntronicSNV - 7/7
14-76650764-T-A GPATCH2L c.1193+3572T>A - IntronicSNV - 8/9
2-21265141-C-A APOB c.237+92G>T - IntronicSNV - 3/28
2-21265141-C-T APOB c.237+92G>A - IntronicSNV - 3/28
16-56919348-C-G SLC12A3 c.1925+72C>G - IntronicSNV - 15/25
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
19-11242974-G-C LDLR c.*982G>C - 3-UTRSNV 18/18 -
14-76650764-T-C GPATCH2L c.1193+3572T>C - IntronicSNV - 8/9
2-21237786-T-A APOB c.3696+159A>T - IntronicSNV - 23/28
2-21237786-T-G APOB c.3696+159A>C - IntronicSNV - 23/28
11-116660813-G-A APOA5 c.*31C>T - 3-UTRSNV 4/4 -
4-47146099-G-A GABRB1 c.241-17167G>A - IntronicSNV - 3/8
2-169791438-A-G ABCB11 c.3056+256T>C - IntronicSNV - 23/27
4-47146099-G-T GABRB1 c.241-17167G>T - IntronicSNV - 3/8
9-2632365-T-G VLDLR c.83-3088T>G - IntronicSNV - 1/18
3-141105570-A-G ZBTB38 c.-416-144A>G - intron_variant - 4/7
6-161081842-C-T LPA c.49+3356G>A - IntronicSNV - 1/38
6-161019866-A-T LPA c.3287+666T>A - IntronicSNV - 20/38
11-2824800-G-T KCNQ1 c.1794+25533G>T - IntronicSNV - 15/15
9-2636992-T-C VLDLR c.202+1420T>C - IntronicSNV - 2/18
4-5221538-G-C STK32B c.260+51361G>C - IntronicSNV - 3/11
4-5221538-G-A STK32B c.260+51361G>A - IntronicSNV - 3/11
6-160959831-A-T LPA c.5736-838T>A - IntronicSNV - 36/38
9-86039118-G-A FRMD3 c.148-34495C>T - IntronicSNV - 1/13
12-56395378-G-A SUOX c.1-628G>A - IntronicSNV - 3/5
9-2631738-A-C VLDLR c.83-3715A>C - IntronicSNV - 1/18
16-83764204-T-C CDH13 c.1539-17509T>C - IntronicSNV - 10/13
2-109579738-C-A EDAR c.-19+25678G>T - intron_variant - 1/11
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
9-2643832-T-C VLDLR c.944-5T>C - IntronicSNV - 6/18
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
7-94946084-A-G PON1 c.163T>C p.Leu55Leu Synonymous 3/9 -
9-2636520-G-T VLDLR c.202+948G>T - IntronicSNV - 2/18
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
4-155527436-C-T FGG c.1129+421G>A - IntronicSNV - 8/8
9-2651809-T-C VLDLR c.2336-65T>C - IntronicSNV - 16/18
1-212786883-T-C ATF3 c.1-1481T>C - IntronicSNV - 1/3
6-161010354-C-G LPA c.3947+231G>C - IntronicSNV - 24/38
6-161010354-C-A LPA c.3947+231G>T - IntronicSNV - 24/38
9-2651962-G-T VLDLR c.2416+8G>T - IntronicSNV - 17/18
10-71093392-C-T HK1 c.64-10191C>T - IntronicSNV - 1/17
4-88023870-T-A AFF1 c.1263-2910T>A - IntronicSNV - 7/19
4-88023870-T-C AFF1 c.1263-2910T>C - IntronicSNV - 7/19
9-2626260-C-T VLDLR c.82+3989C>T - IntronicSNV - 1/18
6-5581224-A-G FARS2 c.1066-32178A>G - IntronicSNV - 5/6
9-2648773-A-G VLDLR c.2067A>G p.Gln689Gln Synonymous 14/19 -
1-120517959-G-T NOTCH2 c.875-5592C>A - IntronicSNV - 5/33
4-155490344-G-T FGB c.843G>T p.Val281Val Synonymous 6/8 -
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
7-44245853-A-T YKT6 c.188-131A>T - IntronicSNV - 2/6
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -