PMID: 29083407

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature genetics
X Lu, GM Peloso, DJ Liu, Y Wu, H Zhang, W Zhou, J Li, CS Tang, R Dorajoo, H Li, J Long, X Guo, M Xu, CN Spracklen, Y Chen, X Liu, Y Zhang, CC Khor, J Liu, L Sun, L Wang, YT Gao, Y Hu, K Yu, Y Wang, CYY Cheung, F Wang, J Huang, Q Fan, Q Cai, S Chen, J Shi, X Yang, W Zhao, WH Sheu, SS Cherny, M He, AB Feranil, LS Adair, P Gordon-Larsen, S Du, R Varma, YI Chen, XO Shu, KSL Lam, TY Wong, SK Ganesh, Z Mo, K Hveem, LG Fritsche, JB Nielsen, HF Tse, Y Huo, CY Cheng, YE Chen, W Zheng, ES Tai, W Gao, X Lin, W Huang, G Abecasis, , S Kathiresan, KL Mohlke, T Wu, PC Sham, D Gu, CJ Willer
2017-12

428 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-116325142-C-T FRK c.364G>A p.Gly122Arg Missense 2/8 -
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
19-11350874-C-T ANGPTL8 c.361C>T p.Gln121* Nonsense 2/4 -
6-31753526-G-A VARS c.1101-16C>T - IntronicSNV - 8/29
6-101296389-G-A ASCC3 c.436C>T p.Leu146Phe Missense 4/42 -
7-6449496-T-C DAGLB c.1991A>G p.Gln664Arg Missense 15/15 -
2-44074431-C-T ABCG8 c.322+981C>T - IntronicSNV - 3/12
12-125307053-G-A SCARB1 c.127-4800C>T - IntronicSNV - 1/12
16-67911517-T-C EDC4 c.747T>C p.Cys249Cys Synonymous 6/29 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
7-80285893-A-G CD36 c.158A>G p.Asn53Ser Missense 4/14 -
3-52532118-A-T STAB1 c.78+2611A>T - IntronicSNV - 1/68
7-44578500-G-T NPC1L1 c.1496C>A p.Thr499Lys Missense 2/20 -
19-45322744-A-G BCAM c.1615A>G p.Thr539Ala Missense 12/15 -
2-158437683-T-C ACVR1C c.304+6016A>G - IntronicSNV - 2/8
3-50093209-G-A RBM6 c.1693+1381G>A - IntronicSNV - 8/20
12-57809456-C-T R3HDM2 c.-106+15047G>A - intron_variant - 1/23
6-31496949-C-T MCCD1 c.158C>T p.Thr53Met Missense 1/2 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
2-27559188-G-C GTF3C2 c.1232C>G p.Ala411Gly Missense 8/19 -
6-160543148-C-T SLC22A1 c.181C>T p.Arg61Cys Missense 1/11 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
9-107556776-T-G ABCA1 c.5398A>C p.Asn1800His Missense 40/50 -
8-19824492-T-C LPL c.*1671T>C - 3-UTRSNV 10/10 -
8-19824492-T-A LPL c.*1671T>A - 3-UTRSNV 10/10 -
6-31113251-A-T CCHCR1 c.1446T>A p.Leu482Leu Synonymous 12/18 -
6-31113251-A-C CCHCR1 c.1446T>G p.Leu482Leu Synonymous 12/18 -
6-31113251-A-G CCHCR1 c.1446T>C p.Leu482Leu Synonymous 12/18 -
20-17596155-C-G RRBP1 c.2672G>C p.Arg891Pro Missense 24/26 -
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
1-150940625-T-A CERS2 c.344A>T p.Glu115Val Missense 4/11 -
11-116661488-C-T APOA5 c.457G>A p.Val153Met Missense 4/4 -
1-150940625-T-G CERS2 c.344A>C p.Glu115Ala Missense 4/11 -
19-11257018-T-C SPC24 c.*841A>G - IntergenicSNV 5/5 -
6-160872151-C-T SLC22A3 c.*63C>T - 3-UTRSNV 11/11 -
11-66638633-T-C PC c.523A>G p.Thr175Ala Missense 7/23 -
2-165551201-T-C COBLL1 c.2815A>G p.Asn939Asp Missense 12/14 -
5-95751766-A-G PCSK1 c.680T>C p.Val227Ala Missense 6/14 -
11-116623659-C-T BUD13 c.1766+4203G>A - IntronicSNV - 9/9
6-32050758-C-A TNXB c.3446-655G>T - IntronicSNV - 8/43
6-32050758-C-T TNXB c.3446-655G>A - IntronicSNV - 8/43
1-221057646-C-G HLX c.1067C>G p.Pro356Arg Missense 4/4 -
19-36637209-T-A CAPNS1 c.716T>A p.Met239Lys Missense 9/11 -
1-221057646-C-T HLX c.1067C>T p.Pro356Leu Missense 4/4 -
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
19-33909710-T-G PEPD c.672-5161A>C - IntronicSNV - 9/14
19-33909710-T-C PEPD c.672-5161A>G - IntronicSNV - 9/14
12-109994870-A-T MMAB c.716T>A p.Met239Lys Missense 9/9 -
6-34824636-A-G UHRF1BP1 c.1361A>G p.Gln454Arg Missense 11/21 -
2-136590746-C-T LCT c.655G>A p.Val219Ile Missense 2/17 -
2-136590746-C-A LCT c.655G>T p.Val219Phe Missense 2/17 -
17-76403984-G-A PGS1 c.1402+3814G>A - IntronicSNV - 7/9
7-1083777-A-G C7orf50 c.130-33998T>C - IntronicSNV - 2/4
7-44444122-G-A NUDCD3 c.703C>T p.Arg235Cys Missense 4/6 -
3-52532118-A-G STAB1 c.78+2611A>G - IntronicSNV - 1/68
22-46627780-C-T PPARA c.803C>T p.Ala268Val Missense 7/8 -
11-18632984-T-C SPTY2D1 c.1964+40A>G - IntronicSNV - 5/5
19-7184762-A-G INSR c.653-114T>C - IntronicSNV - 2/21
12-109994870-A-G MMAB c.716T>C p.Met239Thr Missense 9/9 -
12-7649484-T-G CD163 c.1024A>C p.Ile342Leu Missense 5/17 -
11-117100257-C-T PCSK7 c.304G>A p.Ala102Thr Missense 3/17 -
2-203880992-T-C NBEAL1 c.1-116T>C - 5-UTRSNV 2/55 -
15-43820717-C-T MAP1A c.7046C>T p.Pro2349Leu Missense 4/6 -
1-230304988-A-C GALNT2 c.127-8976A>C - IntronicSNV - 1/15
19-45410002-G-A APOE c.43+78G>A - IntronicSNV - 2/3
9-107578620-G-A ABCA1 c.3542C>T p.Ser1181Phe Missense 25/50 -
16-72013797-G-C PKD1L3 c.1286C>G p.Thr429Ser Missense 9/31 -
11-116707044-A-T APOA1 c.284T>A p.Phe95Tyr Missense 4/4 -
5-74400516-G-C ANKRD31 c.4697C>G p.Thr1566Arg Missense 21/25 -
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
22-46615880-T-C PPARA c.680T>C p.Val227Ala Missense 6/8 -
1-109817590-G-T CELSR2 c.*919G>T - 3-UTRSNV 34/34 -
19-45412269-T-A APOE c.716T>A p.Met239Lys Missense 4/4 -
6-160840252-G-T SLC22A3 c.975+8374G>T - IntronicSNV - 5/10
2-203519783-T-G FAM117B c.601+19272T>G - IntronicSNV - 1/7
5-74646765-A-C HMGCR c.932A>C p.Tyr311Ser Missense 9/20 -
11-116722041-G-T SIK3 c.3512-2042C>A - intron_variant - 20/23
10-74637326-T-C MCU c.861+5988T>C - IntronicSNV - 6/7
11-116661392-C-T APOA5 c.553G>A p.Gly185Ser Missense 4/4 -
16-81534790-T-C CMIP c.18+5691T>C - IntronicSNV - 1/20
15-43622265-C-G LCMT2 c.423G>C p.Arg141Ser Missense 1/1 -
8-19819439-A-G LPL c.1323-187A>G - IntronicSNV - 8/9
10-74637326-T-A MCU c.861+5988T>A - IntronicSNV - 6/7
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
16-72156842-T-A PMFBP1 c.2739A>T p.Lys913Asn Missense 19/21 -
16-72156842-T-C PMFBP1 c.2739A>G p.Lys913Lys Synonymous 19/21 -
11-116661392-C-A APOA5 c.553G>T p.Gly185Cys Missense 4/4 -
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
15-43622265-C-A LCMT2 c.423G>T p.Arg141Ser Missense 1/1 -
19-7831628-G-A CLEC4M c.871G>A p.Asp291Asn Missense 5/7 -
12-125299542-C-T SCARB1 c.403G>A p.Val135Ile Missense 3/13 -
9-136149399-G-A ABO c.28+1179C>T - IntronicSNV - 1/7
11-116722041-G-C SIK3 c.3512-2042C>G - intron_variant - 20/23
16-67976823-C-G LCAT c.368G>C p.Arg123Pro Missense 3/6 -
11-66639504-C-T PC c.127G>A p.Ala43Thr Missense 4/23 -
16-56997025-T-G CETP c.222T>G p.Tyr74* Nonsense 2/16 -
16-67976823-C-T LCAT c.368G>A p.Arg123His Missense 3/6 -
6-32041621-G-A TNXB c.4484C>T p.Thr1495Ile Missense 12/44 -
18-47109955-A-C LIPG c.1187A>C p.Asn396Thr Missense 8/10 -
18-47109955-A-G LIPG c.1187A>G p.Asn396Ser Missense 8/10 -
16-57002732-T-G CETP c.234-566T>G - IntronicSNV - 2/15
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
9-136137065-A-C ABO c.99-288T>G - IntronicSNV - 2/7
19-45395266-G-A TOMM40 c.274+320G>A - IntronicSNV - 2/9
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -
22-35711098-A-G TOM1 c.53-2772A>G - IntronicSNV - 1/14
2-21242613-G-A APOB c.2981C>T p.Pro994Leu Missense 19/29 -
17-67081278-A-G ABCA6 c.4075T>C p.Cys1359Arg Missense 32/39 -
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
5-95768632-T-C PCSK1 c.115A>G p.Ile39Val Missense 1/14 -
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
8-145058986-A-G PARP10 c.1184T>C p.Leu395Pro Missense 5/11 -
9-107593329-C-G ABCA1 c.1769G>C p.Trp590Ser Missense 14/50 -
6-161018174-C-T LPA c.3288-1607G>A - IntronicSNV - 20/38
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
19-36631945-GC-AG CAPNS1 c.32_33delGCinsAG p.Gly11Glu Missense 2/11 -
9-107593329-C-A ABCA1 c.1769G>T p.Trp590Leu Missense 14/50 -
22-30888494-C-T SEC14L4 c.631G>A p.Glu211Lys Missense 8/12 -
8-116599199-T-G TRPS1 c.2700+29A>C - IntronicSNV - 5/6
21-46875817-G-A COL18A1 c.373G>A p.Val125Ile Missense 1/41 -
8-116599199-T-C TRPS1 c.2700+29A>G - IntronicSNV - 5/6
16-57017292-A-G CETP c.1376A>G p.Asp459Gly Missense 15/16 -
12-125284671-G-A SCARB1 c.1127C>T p.Pro376Leu Missense 8/13 -
10-113913222-T-C GPAM c.*86A>G - 3-UTRSNV 22/22 -
19-36632121-A-T CAPNS1 c.208A>T p.Ser70Cys Missense 2/11 -
9-107586753-T-C ABCA1 c.2649A>G p.Ile883Met Missense 18/50 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
20-33488771-C-T ACSS2 c.375-12128C>T - IntronicSNV - 2/17
16-67997920-T-C SLC12A4 c.116-458A>G - IntronicSNV - 1/23
11-116692334-C-T APOA4 c.440G>A p.Ser147Asn Missense 3/3 -
16-67976320-A-T LCAT c.694T>A p.Ser232Thr Missense 5/6 -
16-67976320-A-C LCAT c.694T>G p.Ser232Ala Missense 5/6 -
11-116633862-G-A BUD13 c.443C>T p.Pro148Leu Missense 4/10 -
19-11213450-G-T LDLR c.301G>T p.Glu101* Nonsense 3/18 -
1-93009438-C-G EVI5 c.2118+19761G>C - IntronicSNV - 17/17
19-11213450-G-A LDLR c.301G>A p.Glu101Lys Missense 3/18 -
6-16145325-A-G MYLIP c.1025A>G p.Asn342Ser Missense 6/7 -
17-41931375-A-G CD300LG c.682A>G p.Thr228Ala Missense 4/7 -
19-54759361-T-C LILRB5 c.740A>G p.Asp247Gly Missense 5/13 -
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
19-11347493-T-C DOCK6 c.2136A>G p.Thr712Thr Synonymous 19/48 -
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
12-109661672-A-G ACACB c.3845A>G p.Tyr1282Cys Missense 27/53 -
11-116896155-A-C SIK3 c.274-68375T>G - intron_variant - 1/23
19-36637181-A-C CAPNS1 c.688A>C p.Ile230Leu Missense 9/11 -
3-58381287-G-A PXK c.721-98G>A - IntronicSNV - 8/17
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
1-213061892-G-A FLVCR1 c.1369G>A p.Glu457Lys Missense 7/10 -
17-76395430-C-T PGS1 c.513C>T p.Gly171Gly Synonymous 5/10 -
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
11-66297363-C-A BBS1 c.1413C>A p.Leu471Leu Synonymous 14/17 -
11-126160826-C-T TIRAP c.37C>T p.Arg13Trp Missense 4/5 -
1-55512267-C-A PCSK9 c.471C>A p.Asn157Lys Missense 3/12 -
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
2-27801759-A-G C2orf16 c.2320A>G p.Ile774Val Missense 1/1 -
7-80300449-T-G CD36 c.975T>G p.Tyr325* Nonsense 10/14 -
22-30776095-C-T RNF215 c.964G>A p.Ala322Thr Missense 7/9 -
19-54759361-T-G LILRB5 c.740A>C p.Asp247Ala Missense 5/13 -
9-107646756-G-A ABCA1 c.254C>T p.Pro85Leu Missense 4/50 -
19-11350874-C-G ANGPTL8 c.361C>G p.Gln121Glu Missense 2/4 -
7-72856430-T-C BAZ1B c.*96A>G - IntronicSNV - 19/19
12-124427306-T-A CCDC92 c.208A>T p.Ser70Cys Missense 4/5 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
3-50369546-C-A RASSF1 c.1-57G>T - 5-UTRSNV 2/5 -
4-89740128-G-A FAM13A c.29+3999C>T - IntronicSNV - 1/17
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
18-47101838-G-A LIPG c.671G>A p.Arg224His Missense 5/10 -
10-101912064-T-C ERLIN1 c.871A>G p.Ile291Val Missense 11/11 -
7-150217309-C-G GIMAP7 c.247C>G p.Arg83Gly Missense 2/2 -
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
9-107579632-C-T ABCA1 c.3516G>A p.Glu1172Glu Synonymous 24/50 -
9-107579632-C-G ABCA1 c.3516G>C p.Glu1172Asp Missense 24/50 -
8-116648565-A-C TRPS1 c.1-12701T>G - IntronicSNV - 1/6
17-45732774-C-A KPNB1 c.283-1452C>A - IntronicSNV - 3/21
11-66619986-GC-AA PC c.1748_1749delGCinsAA p.Arg583Gln Missense 15/23 -
11-47663049-A-G MTCH2 c.87+882T>C - IntronicSNV - 1/12
12-109696838-G-A ACACB c.6421G>A p.Val2141Ile Missense 47/53 -
12-121424861-A-C HNF1A c.327-1775A>C - IntronicSNV - 1/9
9-107560784-C-T ABCA1 c.5039G>A p.Arg1680Gln Missense 37/50 -
2-21238367-C-T APOB c.3383G>A p.Arg1128His Missense 22/29 -
1-93584606-G-A MTF2 c.729-284G>A - IntronicSNV - 7/14
11-66638816-C-T PC c.457G>A p.Val153Met Missense 6/23 -
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
6-127452935-C-T RSPO3 c.97+12501C>T - IntronicSNV - 1/4
17-46022065-G-A PNPO c.347G>A p.Arg116Gln Missense 3/7 -
12-121424861-A-T HNF1A c.327-1775A>T - IntronicSNV - 1/9
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
1-150958836-A-G ANXA9 c.497A>G p.Asp166Gly Missense 8/14 -
19-49206417-A-G FUT2 c.204A>G p.Ala68Ala Synonymous 2/2 -
2-21225485-C-T APOB c.12809G>A p.Arg4270Lys Missense 29/29 -
11-61571478-T-C FADS1 c.1054-239A>G - IntronicSNV - 7/11
11-66297363-C-T BBS1 c.1413C>T p.Leu471Leu Synonymous 14/17 -
16-72156842-T-G PMFBP1 c.2739A>C p.Lys913Asn Missense 19/21 -
2-44028013-A-T DYNC2LI1 c.688A>T p.Ile230Leu Missense 9/13 -
11-18645843-C-G SPTY2D1 c.61-7307G>C - IntronicSNV - 1/5
11-18645843-C-A SPTY2D1 c.61-7307G>T - IntronicSNV - 1/5
1-213046086-A-C FLVCR1 c.950A>C p.Glu317Ala Missense 3/10 -
6-39282806-G-T KCNK16 c.902C>A p.Pro301His Missense 6/6 -
16-56995935-C-A CETP c.44C>A p.Ala15Asp Missense 1/16 -
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
16-56995935-C-G CETP c.44C>G p.Ala15Gly Missense 1/16 -
2-44066247-G-C ABCG8 c.55G>C p.Asp19His Missense 1/13 -
16-57006590-C-G CETP c.750+595C>G - IntronicSNV - 8/15
16-57006590-C-T CETP c.750+595C>T - IntronicSNV - 8/15
15-63414083-A-C LACTB c.13A>C p.Met5Leu Missense 1/6 -
9-2640759-A-G VLDLR c.326-618A>G - IntronicSNV - 3/18
18-47113165-C-G LIPG c.1426C>G p.Arg476Gly Missense 9/10 -
21-46875775-G-A COL18A1 c.331G>A p.Gly111Arg Missense 1/41 -
11-116701560-G-T APOC3 c.127G>T p.Ala43Ser Missense 3/4 -
22-21982892-C-T YDJC c.787G>A p.Ala263Thr Missense 5/5 -
11-116701560-G-A APOC3 c.127G>A p.Ala43Thr Missense 3/4 -
19-46181392-G-C GIPR c.1060G>C p.Glu354Gln Missense 12/14 -
2-21252534-G-A APOB c.1594C>T p.Arg532Trp Missense 12/29 -
19-52324216-G-C FPR3 c.1-2786G>C - IntronicSNV - 1/1
19-52324216-G-A FPR3 c.1-2786G>A - IntronicSNV - 1/1
6-31101674-C-T PSORS1C1 c.13+4252C>T - IntronicSNV - 3/5
9-107560784-C-A ABCA1 c.5039G>T p.Arg1680Leu Missense 37/50 -
20-17596155-C-T RRBP1 c.2672G>A p.Arg891Gln Missense 24/26 -
4-3473139-A-G DOK7 c.101-1994A>G - IntronicSNV - 2/6
18-47091686-G-A LIPG c.98-1G>A - IntronicSNV - 1/9
11-116707739-A-C APOA1 c.178T>G p.Ser60Ala Missense 3/4 -
11-116707739-A-G APOA1 c.178T>C p.Ser60Pro Missense 3/4 -
9-136137065-A-G ABO c.99-288T>C - IntronicSNV - 2/7
11-66618724-GC-AG PC c.2009_2010delGCinsAG p.Gly670Glu Missense 17/23 -
11-47290147-G-A NR1H3 c.1064G>A p.Arg355Gln Missense 9/9 -
12-123345509-G-T HIP1R c.2813G>T p.Cys938Phe Missense 29/32 -
9-136131651-G-A ABO c.464C>T - missense_variant 8/8 -
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
19-45412040-C-T APOE c.487C>T p.Arg163Cys Missense 4/4 -
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
5-153413390-C-T FAM114A2 c.364G>A p.Gly122Ser Missense 4/14 -
2-21225485-C-G APOB c.12809G>C p.Arg4270Thr Missense 29/29 -
11-116639104-A-T BUD13 c.237+1741T>A - IntronicSNV - 2/9
11-116639104-A-G BUD13 c.237+1741T>C - IntronicSNV - 2/9
22-46627603-C-T PPARA c.712-86C>T - IntronicSNV - 6/7
11-116633947-G-A BUD13 c.358C>T p.Arg120Cys Missense 4/10 -
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
12-109937534-G-A UBE3B c.1037G>A p.Arg346Gln Missense 12/28 -
12-125298855-T-C SCARB1 c.523A>G p.Thr175Ala Missense 4/13 -
19-8429323-G-A ANGPTL4 c.118G>A p.Glu40Lys Missense 1/7 -
16-72011181-G-C PKD1L3 c.1713C>G p.His571Gln Missense 11/31 -
11-47270255-C-T ACP2 c.86G>A p.Arg29Gln Missense 1/11 -
16-72011181-G-T PKD1L3 c.1713C>A p.His571Gln Missense 11/31 -
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
8-19811733-G-A LPL c.644G>A p.Gly215Glu Missense 5/10 -
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
8-19811733-G-C LPL c.644G>C p.Gly215Ala Missense 5/10 -
18-47113165-C-T LIPG c.1426C>T p.Arg476Trp Missense 9/10 -
2-27726437-A-C GCKR c.701A>C p.Gln234Pro Missense 9/19 -
16-71967929-C-T PKD1L3 c.4709G>A p.Cys1570Tyr Missense 28/31 -
19-45448465-T-A APOC4 c.287T>A p.Leu96His Missense 3/3 -
19-45448465-T-G APOC4 c.287T>G p.Leu96Arg Missense 3/3 -
2-21231524-G-T APOB c.8216C>A p.Pro2739Gln Missense 26/29 -
6-32609105-G-A HLA-DQA1 c.101G>A p.Cys34Tyr Missense 2/5 -
3-47045846-C-T NBEAL2 c.6161C>T p.Ser2054Phe Missense 37/54 -
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
12-123200768-T-C HCAR3 c.517A>G p.Thr173Ala Missense 1/1 -
22-29451671-A-G ZNRF3 c.*2061A>G - 3-UTRSNV 9/9 -
19-11275139-A-C KANK2 c.*2095T>G - 3-UTRSNV 11/11 -
8-19816934-T-C LPL c.1139+43T>C - IntronicSNV - 7/9
2-44066247-G-A ABCG8 c.55G>A p.Asp19Asn Missense 1/13 -
12-123200768-T-G HCAR3 c.517A>C p.Thr173Pro Missense 1/1 -
11-66638933-C-T PC c.340G>A p.Val114Met Missense 6/23 -
7-72856269-G-A BAZ1B c.*257C>T - IntronicSNV - 19/19
8-19805708-G-C LPL c.106G>C p.Asp36His Missense 2/10 -
5-53300662-A-G ARL15 c.462+108370T>C - IntronicSNV - 4/4
19-11217344-T-A LDLR c.798T>A p.Asp266Glu Missense 5/18 -
13-32953388-T-C BRCA2 c.8755-66T>C - IntronicSNV - 21/26
8-19805708-G-A LPL c.106G>A p.Asp36Asn Missense 2/10 -
12-123796238-C-T SBNO1 c.3218-562G>A - IntronicSNV - 24/31
1-23766233-C-T ASAP3 c.945-510G>A - IntronicSNV - 10/24
11-116707736-C-T APOA1 c.181G>A p.Ala61Thr Missense 3/4 -
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
2-27550967-A-G GTF3C2 c.2346T>C p.Pro782Pro Synonymous 17/19 -
7-44578500-G-A NPC1L1 c.1496C>T p.Thr499Met Missense 2/20 -
7-44578500-G-C NPC1L1 c.1496C>G p.Thr499Arg Missense 2/20 -
2-219555262-G-T STK36 c.1748G>T p.Arg583Leu Missense 14/27 -
7-80302116-C-G CD36 c.1156C>G p.Arg386Gly Missense 12/14 -
7-80302116-C-T CD36 c.1156C>T p.Arg386Trp Missense 12/14 -
10-113940329-T-C GPAM c.127A>G p.Ile43Val Missense 4/22 -
1-156700651-T-G RRNAD1 c.112-1132T>G - IntronicSNV - 1/7
2-219555262-G-A STK36 c.1748G>A p.Arg583Gln Missense 14/27 -
4-100504664-T-C MTTP c.383T>C p.Ile128Thr Missense 4/19 -
12-100800193-C-T SLC17A8 c.1186+2245C>T - IntronicSNV - 9/11
10-113940329-T-G GPAM c.127A>C p.Ile43Leu Missense 4/22 -
16-15129970-A-G PDXDC1 c.2205A>G p.Leu735Leu Synonymous 23/23 -
3-12628920-G-C RAF1 c.1417+170C>G - IntronicSNV - 13/16
6-32041621-G-T TNXB c.4484C>A p.Thr1495Lys Missense 12/44 -
7-73012042-G-A MLXIPL c.1073C>T p.Ala358Val Missense 9/17 -
4-100045616-C-T ADH4 c.1120G>A p.Val374Ile Missense 9/9 -
7-150217309-C-T GIMAP7 c.247C>T p.Arg83Cys Missense 2/2 -
19-45316588-G-T BCAM c.586G>T p.Val196Leu Missense 5/15 -
19-45316588-G-A BCAM c.586G>A p.Val196Ile Missense 5/15 -
20-34116282-T-C C20orf173 c.580A>G p.Lys194Glu Missense 4/6 -
20-34116282-T-G C20orf173 c.580A>C p.Lys194Gln Missense 4/6 -
12-121420807-G-A HNF1A c.326+3910G>A - IntronicSNV - 1/9
7-17911038-C-T SNX13 c.753+2113G>A - IntronicSNV - 8/25
6-160840252-G-A SLC22A3 c.975+8374G>A - IntronicSNV - 5/10
17-64210580-A-G APOH c.973T>C p.Cys325Arg Missense 7/8 -
16-67976851-C-A LCAT c.340G>T p.Val114Leu Missense 3/6 -
16-67976851-C-T LCAT c.340G>A p.Val114Met Missense 3/6 -
16-67976851-C-G LCAT c.340G>C p.Val114Leu Missense 3/6 -
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
7-73020337-C-G MLXIPL c.723G>C p.Gln241His Missense 6/17 -
5-74443132-C-T ANKRD31 c.2104G>A p.Asp702Asn Missense 14/25 -
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
6-31379109-G-A MICA c.586G>A p.Glu196Lys Missense 3/6 -
7-44578747-G-A NPC1L1 c.1249C>T p.Arg417Trp Missense 2/20 -
1-55529215-C-T PCSK9 c.2037C>T p.Cys679Cys Synonymous 12/12 -
2-21233972-T-C APOB c.5768A>G p.His1923Arg Missense 26/29 -
12-121424861-A-G HNF1A c.327-1775A>G - IntronicSNV - 1/9
18-47095862-C-T LIPG c.515C>T p.Ala172Val Missense 4/10 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
12-9082581-A-G PHC1 c.613-450A>G - IntronicSNV - 6/14
19-11224296-G-T LDLR c.1444G>T p.Asp482Tyr Missense 10/18 -
11-10669228-T-G MRVI1 c.198+4344A>C - IntronicSNV - 1/19
11-10669228-T-A MRVI1 c.198+4344A>T - IntronicSNV - 1/19
11-10669228-T-C MRVI1 c.198+4344A>G - IntronicSNV - 1/19
17-65903006-A-G BPTF c.3190+2050A>G - IntronicSNV - 11/29
19-11224296-G-C LDLR c.1444G>C p.Asp482His Missense 10/18 -
19-11224296-G-A LDLR c.1444G>A p.Asp482Asn Missense 10/18 -
2-21228437-A-G APOB c.11303T>C p.Ile3768Thr Missense 26/29 -
19-10229580-T-C EIF3G c.204A>G p.Thr68Thr Synonymous 4/11 -
6-31116210-G-A CCHCR1 c.1285C>T p.Leu429Leu Synonymous 10/18 -
6-30603519-G-A ATAT1 c.538-4635G>A - IntronicSNV - 6/10
19-11217315-C-T LDLR c.769C>T p.Arg257Trp Missense 5/18 -
11-117299414-C-T DSCAML1 c.5792G>A - missense_variant 33/33 -
2-63149557-G-A EHBP1 c.1291-20296G>A - IntronicSNV - 11/24
5-74442964-T-C ANKRD31 c.2272A>G p.Arg758Gly Missense 14/25 -
5-95768652-A-G PCSK1 c.95T>C p.Val32Ala Missense 1/14 -
11-66638641-G-A PC c.515C>T p.Ala172Val Missense 7/23 -
19-50000009-G-A RPS11 c.15+281G>A - IntronicSNV - 1/4
1-93159927-G-A EVI5 c.1060C>T p.Arg354Cys Missense 8/18 -
22-45996298-A-G FBLN1 c.2084A>G p.His695Arg Missense 17/17 -
17-64210580-A-C APOH c.973T>G p.Cys325Gly Missense 7/8 -
19-7224431-G-A INSR c.653-39783C>T - IntronicSNV - 2/21
19-50038017-C-T RCN3 c.445+365C>T - IntronicSNV - 3/6
19-50038017-C-A RCN3 c.445+365C>A - IntronicSNV - 3/6
19-10415795-A-C ZGLP1 c.788T>G p.Val263Gly Missense 4/4 -
1-230304988-A-G GALNT2 c.127-8976A>G - IntronicSNV - 1/15
16-72162966-G-A PMFBP1 c.1949C>T p.Thr650Met Missense 13/21 -
6-32052444-C-T TNXB c.3191G>A p.Arg1064His Missense 8/44 -
1-183094547-T-C LAMC1 c.2663T>C p.Leu888Pro Missense 15/28 -
16-72162966-G-T PMFBP1 c.1949C>A p.Thr650Lys Missense 13/21 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
15-58855748-C-T LIPC c.1214C>T p.Thr405Met Missense 8/9 -
16-57016092-G-C CETP c.1264G>C p.Val422Leu Missense 14/16 -
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
17-41926126-C-T CD300LG c.244C>T p.Arg82Cys Missense 2/7 -
19-33899065-G-A PEPD c.818+3513C>T - IntronicSNV - 11/14
19-49232226-G-A RASIP1 c.1801C>T p.Arg601Cys Missense 5/12 -
19-46307406-A-G RSPH6A c.1653+104T>C - IntronicSNV - 3/5
8-19819724-C-G LPL c.1421C>G p.Ser474* Nonsense 9/10 -
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
16-72027126-T-C PKD1L3 c.524A>G p.Lys175Arg Missense 3/31 -
10-46013277-A-C MARCH8 c.102+15281T>G - IntronicSNV - 2/6
11-66638576-T-C PC c.580A>G p.Lys194Glu Missense 7/23 -
17-37543449-T-G FBXL20 c.42+14165A>C - IntronicSNV - 1/14
17-37543449-T-A FBXL20 c.42+14165A>T - IntronicSNV - 1/14
16-15131962-A-G PDXDC1 c.*1830A>G - IntergenicSNV 23/23 -
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
8-10683929-G-C PINX1 c.302-175C>G - IntronicSNV - 4/6
8-10683929-G-T PINX1 c.302-175C>A - IntronicSNV - 4/6
6-31600106-C-T PRRC2A c.3656C>T p.Ser1219Phe Missense 16/31 -
6-31600106-C-A PRRC2A c.3656C>A p.Ser1219Tyr Missense 16/31 -
9-15296034-C-A TTC39B c.240+11048G>T - IntronicSNV - 1/19
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
7-116358044-A-T MET c.1201-13678A>T - IntronicSNV - 2/20
2-21229160-C-A APOB c.10580G>T p.Arg3527Leu Missense 26/29 -
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
1-213032234-A-G FLVCR1 c.440A>G p.Asp147Gly Missense 1/10 -
18-47093864-C-T LIPG c.332C>T p.Thr111Ile Missense 3/10 -
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
2-136590746-C-G LCT c.655G>C p.Val219Leu Missense 2/17 -
7-116358044-A-G MET c.1201-13678A>G - IntronicSNV - 2/20
2-136555659-T-C LCT c.4916A>G p.Asn1639Ser Missense 13/17 -
1-93009438-C-A EVI5 c.2118+19761G>T - IntronicSNV - 17/17
2-234668570-C-T UGT1A4 c.868-7110C>T - IntronicSNV - 1/4
10-96039597-G-A PLCE1 c.4724G>A p.Arg1575Gln Missense 20/33 -
10-96039597-G-C PLCE1 c.4724G>C p.Arg1575Pro Missense 20/33 -
11-66620271-G-A PC c.1550C>T p.Pro517Leu Missense 14/23 -
19-32917455-T-A DPY19L3 c.238-6167T>A - IntronicSNV - 3/18
16-57016092-G-A CETP c.1264G>A p.Val422Ile Missense 14/16 -
6-34824636-A-T UHRF1BP1 c.1361A>T p.Gln454Leu Missense 11/21 -
2-203880992-T-A NBEAL1 c.1-116T>A - 5-UTRSNV 2/55 -
6-32813279-C-A TAP1 c.*77G>T - 3-UTRSNV 11/11 -
11-116701354-G-A APOC3 c.55+1G>A - IntronicSNV - 2/3
22-46615880-T-A PPARA c.680T>A p.Val227Asp Missense 6/8 -
2-169830155-G-A ABCB11 c.1434+70C>T - IntronicSNV - 13/27
11-116701353-C-G APOC3 c.55C>G p.Arg19Gly Missense 2/4 -
11-116701353-C-T APOC3 c.55C>T p.Arg19* Nonsense 2/4 -
19-11215907-T-C LDLR c.325T>C p.Cys109Arg Missense 4/18 -
5-180218668-A-G MGAT1 c.1304T>C p.Leu435Pro Missense 3/3 -
20-17596155-C-A RRBP1 c.2672G>T p.Arg891Leu Missense 24/26 -
11-66638525-C-T PC c.631G>A p.Glu211Lys Missense 7/23 -
9-107562804-T-C ABCA1 c.4760A>G p.Lys1587Arg Missense 35/50 -
2-44074431-C-A ABCG8 c.322+981C>A - IntronicSNV - 3/12
6-160961137-T-C LPA c.5673A>G p.Ile1891Met Missense 36/39 -
1-55509585-C-T PCSK9 c.277C>T p.Arg93Cys Missense 2/12 -
10-46013277-A-T MARCH8 c.102+15281T>A - IntronicSNV - 2/6
16-81534790-T-A CMIP c.18+5691T>A - IntronicSNV - 1/20
1-55512222-C-T PCSK9 c.426C>T p.Tyr142Tyr Synonymous 3/12 -
2-21252807-C-T APOB c.1433G>A p.Cys478Tyr Missense 11/29 -
8-18258103-G-A NAT2 c.590G>A p.Arg197Gln Missense 2/2 -
12-7649484-T-C CD163 c.1024A>G p.Ile342Val Missense 5/17 -
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
5-95768661-CT-CA PCSK1 c.85_86delAGinsCA p.Arg29Gln Missense 1/14 -
5-95759113-T-C PCSK1 c.447A>G p.Ile149Met Missense 4/14 -
11-65391317-G-A PCNX3 c.2512-83G>A - IntronicSNV - 12/34
19-11231112-C-T LDLR c.2054C>T p.Pro685Leu Missense 14/18 -
19-11231112-C-A LDLR c.2054C>A p.Pro685Gln Missense 14/18 -
22-38569006-A-G PLA2G6 c.1-3573T>C - IntronicSNV - 1/15
17-4692559-G-T GLTPD2 c.145G>T p.Val49Phe Missense 2/4 -
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
3-32533010-C-T CMTM6 c.315+192G>A - IntronicSNV - 2/3
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
4-157720124-C-T PDGFC c.495+11865G>A - IntronicSNV - 3/5
8-133894192-A-C TG c.723A>C p.Gln241His Missense 6/48 -
8-133894192-A-T TG c.723A>T p.Gln241His Missense 6/48 -
7-1097183-G-A C7orf50 c.130-47404C>T - IntronicSNV - 2/4
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -