PMID: 29973585

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Nature communications
SM Zekavat, S Ruotsalainen, RE Handsaker, M Alver, J Bloom, T Poterba, C Seed, J Ernst, M Chaffin, J Engreitz, GM Peloso, A Manichaikul, C Yang, KA Ryan, M Fu, WC Johnson, M Tsai, M Budoff, RS Vasan, LA Cupples, JI Rotter, SS Rich, W Post, BD Mitchell, A Correa, A Metspalu, JG Wilson, V Salomaa, M Kellis, MJ Daly, BM Neale, S McCarroll, I Surakka, T Esko, A Ganna, S Ripatti, S Kathiresan, P Natarajan,
2018-07-04

442 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
8-14779422-C-T SGCZ c.39+315672G>A - IntronicSNV - 1/7
6-161137258-A-G PLG c.669-419A>G - IntronicSNV - 6/18
6-161010118-A-G LPA c.3947+467T>C - IntronicSNV - 24/38
2-44075483-T-C ABCG8 c.322+2033T>C - IntronicSNV - 3/12
17-79500681-A-G FSCN2 c.827-1397A>G - IntronicSNV - 1/4
13-32953388-T-C BRCA2 c.8755-66T>C - IntronicSNV - 21/26
18-3153291-G-A MYOM1 c.1644-1400C>T - IntronicSNV - 11/37
2-203532304-A-G FAM117B c.602-28300A>G - IntronicSNV - 1/7
11-120730301-C-T GRIK4 c.745-2367C>T - IntronicSNV - 8/20
4-72649706-A-C GC c.30T>G p.Ala10Ala Synonymous 1/13 -
6-160789129-C-A SLC22A3 c.429+19249C>A - IntronicSNV - 1/10
17-74572372-T-C ST6GALNAC2 c.187-1751A>G - IntronicSNV - 2/8
1-23766233-C-T ASAP3 c.945-510G>A - IntronicSNV - 10/24
12-123796238-C-T SBNO1 c.3218-562G>A - IntronicSNV - 24/31
5-60177470-G-A ERCC8 c.1122+5797C>T - IntronicSNV - 11/11
6-161153183-C-A PLG c.1587+258C>A - IntronicSNV - 12/18
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
6-160193714-T-C ACAT2 c.491-2488T>C - IntronicSNV - 4/8
7-72129667-C-T TYW1B c.1506+30010G>A - intron_variant - 12/14
6-161669500-T-C AGPAT4 c.1-16255A>G - IntronicSNV - 1/8
6-161669500-T-G AGPAT4 c.1-16255A>C - IntronicSNV - 1/8
6-160971934-G-A LPA c.4974-2243C>T - IntronicSNV - 30/38
1-55584844-G-A USP24 c.4508+1425C>T - IntronicSNV - 38/67
3-60180399-G-T FHIT c.104-180521C>A - IntronicSNV - 5/9
19-45395714-T-C TOMM40 c.339T>C p.Phe113Phe Synonymous 3/10 -
1-156700651-T-G RRNAD1 c.112-1132T>G - IntronicSNV - 1/7
6-160169258-G-A WTAP c.309G>A p.Pro103Pro Synonymous 6/6 -
6-160169258-G-T WTAP c.309G>T p.Pro103Pro Synonymous 6/6 -
6-160810118-C-T SLC22A3 c.430-8893C>T - IntronicSNV - 1/10
6-161171664-C-A PLG c.2126-1483C>A - IntronicSNV - 17/18
6-160997603-A-G LPA c.4631+565T>C - IntronicSNV - 28/38
6-160997603-A-T LPA c.4631+565T>A - IntronicSNV - 28/38
6-160418068-A-G IGF2R c.289+5713A>G - IntronicSNV - 2/47
6-161068607-T-C LPA c.210-1180A>G - IntronicSNV - 2/38
6-160517129-C-T IGF2R c.6656-342C>T - IntronicSNV - 44/47
6-160975548-C-T LPA c.4973+1509G>A - IntronicSNV - 30/38
6-161072446-T-C LPA c.50-917A>G - IntronicSNV - 1/38
5-15916499-T-G FBXL7 c.128-11500T>G - IntronicSNV - 2/3
6-161079599-A-C LPA c.49+5599T>G - IntronicSNV - 1/38
6-160867159-G-A SLC22A3 c.1511-1592G>A - IntronicSNV - 9/10
3-12628920-G-C RAF1 c.1417+170C>G - IntronicSNV - 13/16
17-64210580-A-G APOH c.973T>C p.Cys325Arg Missense 7/8 -
6-160818634-C-T SLC22A3 c.430-377C>T - IntronicSNV - 1/10
6-161030686-C-T LPA c.2603+1908G>A - IntronicSNV - 16/38
6-160999738-T-C LPA c.4290-2A>G - IntronicSNV - 26/38
6-160484838-T-A IGF2R c.3886+176T>A - IntronicSNV - 27/47
6-161022423-T-C LPA c.2946-293A>G - IntronicSNV - 18/38
6-161022423-T-G LPA c.2946-293A>C - IntronicSNV - 18/38
6-160817494-C-T SLC22A3 c.430-1517C>T - IntronicSNV - 1/10
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
11-9212775-G-A DENND5A c.1137+2266C>T - IntronicSNV - 5/22
6-161021648-G-C LPA c.3127+301C>G - IntronicSNV - 19/38
6-161158692-C-T PLG c.1802+653C>T - IntronicSNV - 14/18
6-160556319-G-A SLC22A1 c.840-933G>A - IntronicSNV - 4/10
6-161074481-C-G LPA c.50-2952G>C - IntronicSNV - 1/38
6-160159907-A-G WTAP c.31-115A>G - IntronicSNV - 2/5
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
6-160435569-T-A IGF2R c.513+3752T>A - IntronicSNV - 4/47
6-160435569-T-G IGF2R c.513+3752T>G - IntronicSNV - 4/47
4-89741269-G-C FAM13A c.29+2858C>G - IntronicSNV - 1/17
4-89741269-G-A FAM13A c.29+2858C>T - IntronicSNV - 1/17
11-9212775-G-T DENND5A c.1137+2266C>A - IntronicSNV - 5/22
12-9082581-A-G PHC1 c.613-450A>G - IntronicSNV - 6/14
6-161003221-T-C LPA c.4289+2857A>G - IntronicSNV - 26/38
6-161004972-A-G LPA c.4289+1106T>C - IntronicSNV - 26/38
3-132163200-G-T DNAJC13 c.69-2119G>T - IntronicSNV - 2/55
10-5254847-A-G AKR1C4 c.681-110A>G - IntronicSNV - 6/8
5-170859400-T-C FGF18 c.70-3697T>C - IntronicSNV - 2/4
2-203676105-C-T ICA1L c.910+364G>A - IntronicSNV - 10/13
3-142585504-T-C PCOLCE2 c.193-18190A>G - IntronicSNV - 2/8
20-60905213-C-A LAMA5 c.3980-241G>T - IntronicSNV - 31/79
6-161168478-C-A PLG c.2126-4669C>A - IntronicSNV - 17/18
6-116312893-A-T FRK c.466+12147T>A - IntronicSNV - 2/7
6-160166890-A-G WTAP c.273+2066A>G - IntronicSNV - 5/5
16-53809247-G-C FTO c.46-34805G>C - IntronicSNV - 1/8
15-100714479-A-T ADAMTS17 c.1182-18954T>A - IntronicSNV - 8/21
6-32412435-G-A HLA-DRA c.*18G>A - 3_prime_UTR_variant 5/5 -
6-160988431-G-C LPA c.4631+9737C>G - IntronicSNV - 28/38
6-160226421-G-A PNLDC1 c.429-594G>A - IntronicSNV - 6/18
4-68448626-A-G STAP1 c.531-666A>G - IntronicSNV - 5/8
6-160969693-T-C LPA c.4974-2A>G - IntronicSNV - 30/38
10-101953705-A-C CHUK c.1974+36T>G - IntronicSNV - 18/20
17-41926126-C-T CD300LG c.244C>T p.Arg82Cys Missense 2/7 -
2-63149557-G-A EHBP1 c.1291-20296G>A - IntronicSNV - 11/24
6-161025797-T-C LPA c.2945+281A>G - IntronicSNV - 18/38
6-161023873-C-T LPA c.2946-1743G>A - IntronicSNV - 18/38
13-109390791-G-A MYO16 c.441+10860G>A - IntronicSNV - 4/34
13-109390791-G-T MYO16 c.441+10860G>T - IntronicSNV - 4/34
6-161171664-C-G PLG c.2126-1483C>G - IntronicSNV - 17/18
17-64210580-A-C APOH c.973T>G p.Cys325Gly Missense 7/8 -
6-160431017-C-CTTA IGF2R c.415-702_415-701insTTA - IntronicInsertion - 3/47
19-7224431-G-A INSR c.653-39783C>T - IntronicSNV - 2/21
7-19745927-T-A TWISTNB c.255-1384A>T - IntronicSNV - 1/3
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
19-33899065-G-A PEPD c.818+3513C>T - IntronicSNV - 11/14
6-161068320-C-G LPA c.210-893G>C - IntronicSNV - 2/38
1-186105796-G-A HMCN1 c.13313-4G>A - IntronicSNV - 86/106
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
10-46013277-A-C MARCH8 c.102+15281T>G - IntronicSNV - 2/6
6-161076598-G-GTA LPA c.50-5070_50-5069insTA - IntronicInsertion - 1/38
6-161164724-C-A PLG c.2125+2275C>A - IntronicSNV - 17/18
6-161164724-C-T PLG c.2125+2275C>T - IntronicSNV - 17/18
7-116358044-A-T MET c.1201-13678A>T - IntronicSNV - 2/20
8-10683929-G-C PINX1 c.302-175C>G - IntronicSNV - 4/6
8-10683929-G-T PINX1 c.302-175C>A - IntronicSNV - 4/6
6-161124143-G-T PLG c.49+758G>T - IntronicSNV - 1/18
19-45397229-G-A TOMM40 c.549G>A p.Ser183Ser Synonymous 6/10 -
6-160152776-T-C WTAP c.-9+4041T>C - intron_variant - 1/5
7-116358044-A-G MET c.1201-13678A>G - IntronicSNV - 2/20
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
6-161169993-C-A PLG c.2126-3154C>A - IntronicSNV - 17/18
6-160868902-G-A SLC22A3 c.1610+52G>A - IntronicSNV - 10/10
1-93009438-C-A EVI5 c.2118+19761G>T - IntronicSNV - 17/17
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
6-161562111-G-T AGPAT4 c.844-1459C>A - IntronicSNV - 7/8
6-161562111-G-A AGPAT4 c.844-1459C>T - IntronicSNV - 7/8
6-161012270-C-T LPA c.3630-137G>A - IntronicSNV - 22/38
11-111874041-G-A DIXDC1 c.1753+7171G>A - intron_variant - 18/20
3-183596010-C-T PARL c.125+6500G>A - IntronicSNV - 1/9
6-161641754-C-G AGPAT4 c.178+11314G>C - IntronicSNV - 2/8
6-161641754-C-A AGPAT4 c.178+11314G>T - IntronicSNV - 2/8
6-161641754-C-T AGPAT4 c.178+11314G>A - IntronicSNV - 2/8
22-39066222-G-A CBY1 c.79-667G>A - IntronicSNV - 2/4
6-161027243-T-TG LPA c.2785+265_2785+266insC - IntronicInsertion - 17/38
6-161678751-A-C AGPAT4 c.-90+16219T>G - intron_variant - 1/8
2-169830155-G-A ABCB11 c.1434+70C>T - IntronicSNV - 13/27
6-160230911-A-G PNLDC1 c.751-147A>G - IntronicSNV - 9/18
6-160395415-G-C IGF2R c.149+4988G>C - IntronicSNV - 1/47
22-38546033-T-A PLA2G6 c.210-4373A>T - IntronicSNV - 2/15
3-183646222-A-G ABCC5 c.3933+313T>C - IntronicSNV - 27/29
6-160801401-G-A SLC22A3 c.430-17610G>A - IntronicSNV - 1/10
6-160963771-C-A LPA c.5468G>T p.Gly1823Val Missense 34/39 -
6-159198131-C-T EZR c.699-595G>A - IntronicSNV - 6/12
6-160429737-A-G IGF2R c.290-305A>G - IntronicSNV - 2/47
6-161131544-G-T PLG c.293-565G>T - IntronicSNV - 3/18
11-132642730-C-T OPCML c.147-115516G>A - IntronicSNV - 2/7
22-38546033-T-C PLA2G6 c.210-4373A>G - IntronicSNV - 2/15
6-160959831-A-T LPA c.5736-838T>A - IntronicSNV - 36/38
8-121284703-A-G COL14A1 c.3213+2290A>G - IntronicSNV - 26/47
6-161023345-T-C LPA c.2946-1215A>G - IntronicSNV - 18/38
10-46013277-A-T MARCH8 c.102+15281T>A - IntronicSNV - 2/6
6-161006077-C-A LPA c.4289+1G>T - IntronicSNV - 26/38
6-161076598-G-GT LPA c.50-5070_50-5069insA - IntronicInsertion - 1/38
6-160842725-A-G SLC22A3 c.975+10847A>G - IntronicSNV - 5/10
15-93475238-G-A CHD2 c.443+2917G>A - IntronicSNV - 5/38
16-67660292-C-T CTCF c.1358-166C>T - IntronicSNV - 7/11
6-161127125-G-A PLG c.50-314G>A - IntronicSNV - 1/18
6-161607729-A-T AGPAT4 c.179-20280T>A - IntronicSNV - 2/8
6-161607729-A-C AGPAT4 c.179-20280T>G - IntronicSNV - 2/8
6-161607729-A-G AGPAT4 c.179-20280T>C - IntronicSNV - 2/8
6-160488976-C-T IGF2R c.4116-305C>T - IntronicSNV - 29/47
6-161067892-G-T LPA c.210-465C>A - IntronicSNV - 2/38
16-81534790-T-A CMIP c.18+5691T>A - IntronicSNV - 1/20
6-160961137-T-C LPA c.5673A>G p.Ile1891Met Missense 36/39 -
17-45425115-G-T EFCAB13 c.518-59G>T - IntronicSNV - 8/24
17-45425115-G-A EFCAB13 c.518-59G>A - IntronicSNV - 8/24
7-28585990-T-C CREB5 c.271-23993T>C - IntronicSNV - 4/10
10-124706443-C-T C10orf88 c.648+1722G>A - IntronicSNV - 4/5
6-160858547-G-C SLC22A3 c.1288+304G>C - IntronicSNV - 7/10
1-161479745-A-C FCGR2A c.497A>C p.His166Pro Missense 4/7 -
19-45396219-C-T TOMM40 c.435+33C>T - IntronicSNV - 4/9
6-513687-G-C EXOC2 c.2381-13987C>G - IntronicSNV - 23/27
6-513687-G-A EXOC2 c.2381-13987C>T - IntronicSNV - 23/27
6-161030408-T-C LPA c.2603+2186A>G - IntronicSNV - 16/38
11-65391317-G-A PCNX3 c.2512-83G>A - IntronicSNV - 12/34
6-160668041-C-T SLC22A2 c.957+175G>A - IntronicSNV - 5/10
6-161173349-C-T PLG c.2271+57C>T - IntronicSNV - 18/18
6-160985526-G-A LPA c.4632-6923C>T - IntronicSNV - 28/38
1-58617322-G-A DAB1 c.-375+98590C>T - intron_variant - 1/16
3-32533010-C-T CMTM6 c.315+192G>A - IntronicSNV - 2/3
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
6-161125454-T-C PLG c.50-1985T>C - IntronicSNV - 1/18
3-142591715-T-C PCOLCE2 c.192+14796A>G - IntronicSNV - 2/8
6-160843807-A-C SLC22A3 c.975+11929A>C - IntronicSNV - 5/10
22-44328688-G-T PNPLA3 c.487-70G>T - IntronicSNV - 3/8
22-44328688-G-C PNPLA3 c.487-70G>C - IntronicSNV - 3/8
6-161029670-T-C LPA c.2604-1980A>G - IntronicSNV - 16/38
6-161029670-T-A LPA c.2604-1980A>T - IntronicSNV - 16/38
22-30378703-C-T MTMR3 c.210+3662C>T - IntronicSNV - 5/19
6-160577461-C-A SLC22A1 c.1598+355C>A - IntronicSNV - 10/10
6-160577461-C-T SLC22A1 c.1598+355C>T - IntronicSNV - 10/10
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
6-160805525-G-C SLC22A3 c.430-13486G>C - IntronicSNV - 1/10
2-73740392-C-T ALMS1 c.9537-6510C>T - IntronicSNV - 10/22
6-127454893-G-A RSPO3 c.97+14459G>A - IntronicSNV - 1/4
6-160808368-C-T SLC22A3 c.430-10643C>T - IntronicSNV - 1/10
18-13496304-G-A LDLRAD4 c.181+57921G>A - IntronicSNV - 3/5
6-160953642-A-T LPA c.5882T>A p.Leu1961His Missense 38/39 -
6-160953642-A-G LPA c.5882T>C p.Leu1961Pro Missense 38/39 -
3-183645662-C-T ABCC5 c.3934-431G>A - IntronicSNV - 27/29
6-160805525-G-A SLC22A3 c.430-13486G>A - IntronicSNV - 1/10
6-160480285-C-T IGF2R c.3091+155C>T - IntronicSNV - 22/47
18-47106028-C-T LIPG c.794-1757C>T - IntronicSNV - 5/9
3-50129399-C-T RBM5 c.18-77C>T - IntronicSNV - 2/24
6-161125631-T-C PLG c.50-1808T>C - IntronicSNV - 1/18
10-55976468-T-A PCDH15 c.986-2660A>T - IntronicSNV - 9/32
10-55976468-T-C PCDH15 c.986-2660A>G - IntronicSNV - 9/32
2-170809024-G-T UBR3 c.3545+2449G>T - IntronicSNV - 23/38
2-65284623-T-C CEP68 c.-47+961T>C - intron_variant - 1/6
6-161020913-A-C LPA c.3128-222T>G - IntronicSNV - 19/38
2-211540489-C-A CPS1 c.4217C>A p.Ala1406Asp Missense 37/39 -
15-43237414-C-T UBR1 c.*113G>A - 3-UTRSNV 47/47 -
6-161131483-G-T PLG c.293-626G>T - IntronicSNV - 3/18
3-52532118-A-T STAB1 c.78+2611A>T - IntronicSNV - 1/68
6-160563205-C-T SLC22A1 c.1277-1368C>T - IntronicSNV - 7/10
17-31740461-C-T ASIC2 c.556-301376G>A - IntronicSNV - 1/9
6-161075549-C-G LPA c.50-4020G>C - IntronicSNV - 1/38
7-7452081-G-T COL28A1 c.2136+5409C>A - IntronicSNV - 27/34
22-33894022-C-T LARGE1 c.788-65771G>A - IntronicSNV - 6/14
6-161022107-C-A LPA c.2969G>T p.Arg990Leu Missense 19/39 -
6-161084642-C-T LPA c.49+556G>A - IntronicSNV - 1/38
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
6-160543148-C-T SLC22A1 c.181C>T p.Arg61Cys Missense 1/11 -
6-161016414-A-G LPA c.3441T>C p.Asp1147Asp Synonymous 21/39 -
6-160401156-T-G IGF2R c.149+10729T>G - IntronicSNV - 1/47
6-160401156-T-C IGF2R c.149+10729T>C - IntronicSNV - 1/47
6-160646232-T-C SLC22A2 c.1502-396A>G - IntronicSNV - 9/10
1-220973563-C-T MARC1 c.753+2207C>T - IntronicSNV - 4/6
6-160326690-A-G MAS1 c.1-1298A>G - IntergenicSNV - 2/2
6-160447017-G-A IGF2R c.647-1200G>A - IntronicSNV - 5/47
6-160238709-C-T PNLDC1 c.1124+526C>T - IntronicSNV - 15/18
6-161135313-G-A PLG c.548-513G>A - IntronicSNV - 5/18
5-167352085-A-G TENM2 c.713-27508A>G - IntronicSNV - 4/29
5-167352085-A-C TENM2 c.713-27508A>C - IntronicSNV - 4/29
5-167352085-A-T TENM2 c.713-27508A>T - IntronicSNV - 4/29
6-160431017-C-CTTAA IGF2R c.415-702_415-701insTTAA - IntronicInsertion - 3/47
6-161070831-C-T LPA c.209+539G>A - IntronicSNV - 2/38
3-47061183-G-A SETD2 c.7431+67C>T - IntronicSNV - 19/20
3-47061183-G-C SETD2 c.7431+67C>G - IntronicSNV - 19/20
6-161590128-T-G AGPAT4 c.179-2679A>C - IntronicSNV - 2/8
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
3-12450093-G-T PPARG c.735+2513G>T - IntronicSNV - 5/6
3-12450093-G-A PPARG c.735+2513G>A - IntronicSNV - 5/6
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
6-160436203-T-C IGF2R c.513+4386T>C - IntronicSNV - 4/47
6-160872151-C-T SLC22A3 c.*63C>T - 3-UTRSNV 11/11 -
6-160984396-T-C LPA c.4632-5793A>G - IntronicSNV - 28/38
6-159112349-G-C SYTL3 c.394+8328G>C - IntronicSNV - 7/16
6-160395415-G-A IGF2R c.149+4988G>A - IntronicSNV - 1/47
6-158986045-G-A TMEM181 c.420-8407G>A - IntronicSNV - 1/16
8-87365148-G-C WWP1 c.-115+9989G>C - intron_variant - 1/24
17-76403984-G-A PGS1 c.1402+3814G>A - IntronicSNV - 7/9
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
6-160816360-C-A SLC22A3 c.430-2651C>A - IntronicSNV - 1/10
7-17919258-G-T SNX13 c.441-3845C>A - IntronicSNV - 5/25
7-17919258-G-A SNX13 c.441-3845C>T - IntronicSNV - 5/25
6-160519276-T-A IGF2R c.6842+1619T>A - IntronicSNV - 45/47
6-160519276-T-C IGF2R c.6842+1619T>C - IntronicSNV - 45/47
12-124460167-G-T ZNF664 c.-757+1600G>T - intron_variant - 2/4
6-160667056-T-A SLC22A2 c.958-479A>T - IntronicSNV - 5/10
6-160667056-T-C SLC22A2 c.958-479A>G - IntronicSNV - 5/10
7-6449272-A-G DAGLB c.*196T>C - 3-UTRSNV 15/15 -
6-161127423-G-A PLG c.50-16G>A - IntronicSNV - 1/18
6-161123771-T-C PLG c.49+386T>C - IntronicSNV - 1/18
6-160997118-A-T LPA c.4631+1050T>A - IntronicSNV - 28/38
6-160997118-A-G LPA c.4631+1050T>C - IntronicSNV - 28/38
6-161609789-G-A AGPAT4 c.179-22340C>T - IntronicSNV - 2/8
6-161006084-G-T LPA c.4283C>A p.Pro1428Gln Missense 26/39 -
7-1083777-A-G C7orf50 c.130-33998T>C - IntronicSNV - 2/4
3-52532118-A-G STAB1 c.78+2611A>G - IntronicSNV - 1/68
6-161170835-A-G PLG c.2126-2312A>G - IntronicSNV - 17/18
6-160848167-A-T SLC22A3 c.976-9645A>T - IntronicSNV - 5/10
6-160848167-A-C SLC22A3 c.976-9645A>C - IntronicSNV - 5/10
9-71797329-C-G TJP2 c.60+7981C>G - IntronicSNV - 1/20
6-161020388-C-A LPA c.3287+144G>T - IntronicSNV - 20/38
11-18632984-T-C SPTY2D1 c.1964+40A>G - IntronicSNV - 5/5
6-160661843-G-C SLC22A2 c.1501+663C>G - IntronicSNV - 9/10
1-109817590-G-T CELSR2 c.*919G>T - 3-UTRSNV 34/34 -
6-160661843-G-A SLC22A2 c.1501+663C>T - IntronicSNV - 9/10
1-161479745-A-G FCGR2A c.497A>G p.His166Arg Missense 4/7 -
6-160431017-C-CTTAAAAAAAATGAA IGF2R c.415-702_415-701insTTAAAAAAAATGAA - IntronicInsertion - 3/47
5-53298025-G-A ARL15 c.462+111007C>T - IntronicSNV - 4/4
6-161136294-G-A PLG c.668+348G>A - IntronicSNV - 6/18
12-71174856-G-T PTPRR c.358-16298C>A - IntronicSNV - 2/13
6-160518723-A-G IGF2R c.6842+1066A>G - IntronicSNV - 45/47
2-135837906-C-A RAB3GAP1 c.151-10662C>A - IntronicSNV - 3/23
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
16-81534790-T-C CMIP c.18+5691T>C - IntronicSNV - 1/20
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
6-161069290-C-T LPA c.210-1863G>A - IntronicSNV - 2/38
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
6-161003191-T-G LPA c.4289+2887A>C - IntronicSNV - 26/38
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
6-160494781-C-T IGF2R c.4948-8C>T - IntronicSNV - 34/47
11-128648548-G-A FLI1 c.590-3305G>A - IntronicSNV - 4/8
6-160847571-G-T SLC22A3 c.976-10241G>T - IntronicSNV - 5/10
6-160810720-C-T SLC22A3 c.430-8291C>T - IntronicSNV - 1/10
15-42683787-G-A CAPN3 c.946-1050G>A - IntronicSNV - 6/23
6-160954800-C-T LPA c.5843-1119G>A - IntronicSNV - 37/38
6-161635000-A-G AGPAT4 c.178+18068T>C - IntronicSNV - 2/8
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
6-160966559-G-A LPA c.5311C>T p.Arg1771Cys Missense 33/39 -
6-161006084-G-A LPA c.4283C>T p.Pro1428Leu Missense 26/39 -
6-160867627-A-G SLC22A3 c.1511-1124A>G - IntronicSNV - 9/10
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
6-160963486-A-T LPA c.5519+234T>A - IntronicSNV - 34/38
6-161163074-A-G PLG c.2125+625A>G - IntronicSNV - 17/18
6-160856617-G-T SLC22A3 c.976-1195G>T - IntronicSNV - 5/10
6-161137990-G-A PLG c.787+195G>A - IntronicSNV - 7/18
6-161565731-C-G AGPAT4 c.843+1825G>C - IntronicSNV - 7/8
6-160562512-G-A SLC22A1 c.1276+1613G>A - IntronicSNV - 7/10
6-161608692-C-T AGPAT4 c.179-21243G>A - IntronicSNV - 2/8
6-161608692-C-A AGPAT4 c.179-21243G>T - IntronicSNV - 2/8
17-67081278-A-G ABCA6 c.4075T>C p.Cys1359Arg Missense 32/39 -
17-31740461-C-G ASIC2 c.556-301376G>C - IntronicSNV - 1/9
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
22-35711098-A-G TOM1 c.53-2772A>G - IntronicSNV - 1/14
17-1648502-C-G SERPINF2 c.97C>G p.Arg33Gly Missense 3/10 -
17-1648502-C-T SERPINF2 c.97C>T p.Arg33Trp Missense 3/10 -
6-161018174-C-T LPA c.3288-1607G>A - IntronicSNV - 20/38
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
3-142593271-G-A PCOLCE2 c.192+13240C>T - IntronicSNV - 2/8
6-160854379-G-A SLC22A3 c.976-3433G>A - IntronicSNV - 5/10
6-160465421-G-A IGF2R c.1622-125G>A - IntronicSNV - 12/47
6-160465421-G-T IGF2R c.1622-125G>T - IntronicSNV - 12/47
6-160986321-C-T LPA c.4632-7718G>A - IntronicSNV - 28/38
11-61569830-C-T FADS1 c.*53G>A - 3-UTRSNV 12/12 -
4-72649706-A-T GC c.30T>A p.Ala10Ala Synonymous 1/13 -
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
2-234679384-C-T UGT1A1 c.1305-1524C>T - IntronicSNV - 4/4
4-72649706-A-G GC c.30T>C p.Ala10Ala Synonymous 1/13 -
8-116599199-T-G TRPS1 c.2700+29A>C - IntronicSNV - 5/6
8-116599199-T-C TRPS1 c.2700+29A>G - IntronicSNV - 5/6
3-119560606-T-A GSK3B c.1195+1496A>T - IntronicSNV - 10/10
3-119560606-T-C GSK3B c.1195+1496A>G - IntronicSNV - 10/10
16-68830807-G-T CDH1 c.164-4766G>T - IntronicSNV - 2/15
6-160795707-C-A SLC22A3 c.430-23304C>A - IntronicSNV - 1/10
6-160650958-G-A SLC22A2 c.1502-5122C>T - IntronicSNV - 9/10
6-160810350-G-A SLC22A3 c.430-8661G>A - IntronicSNV - 1/10
6-161021648-G-A LPA c.3127+301C>T - IntronicSNV - 19/38
1-93009438-C-G EVI5 c.2118+19761G>C - IntronicSNV - 17/17
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
6-160663300-C-T SLC22A2 c.1388+26G>A - IntronicSNV - 8/10
6-160647922-C-T SLC22A2 c.1502-2086G>A - IntronicSNV - 9/10
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
6-161173728-C-G PLG c.2272-204C>G - IntronicSNV - 18/18
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
6-161068192-A-G LPA c.210-765T>C - IntronicSNV - 2/38
6-161024293-C-T LPA c.2945+1785G>A - IntronicSNV - 18/38
6-160435929-G-A IGF2R c.513+4112G>A - IntronicSNV - 4/47
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
3-58381287-G-A PXK c.721-98G>A - IntronicSNV - 8/17
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
6-161013030-G-A LPA c.3630-897C>T - IntronicSNV - 22/38
6-160543580-C-A SLC22A1 c.411+202C>A - IntronicSNV - 1/10
17-66875294-C-G ABCA8 c.3919-1474G>C - IntronicSNV - 30/37
19-11347493-T-C DOCK6 c.2136A>G p.Thr712Thr Synonymous 19/48 -
6-160507437-A-G IGF2R c.6205+1274A>G - IntronicSNV - 41/47
6-160794436-A-G SLC22A3 c.429+24556A>G - IntronicSNV - 1/10
6-161022107-C-T LPA c.2969G>A p.Arg990Gln Missense 19/39 -
6-160994143-A-G LPA c.4631+4025T>C - IntronicSNV - 28/38
6-160952816-T-C LPA c.6068A>G p.Tyr2023Cys Missense 39/39 -
7-80300449-T-G CD36 c.975T>G p.Tyr325* Nonsense 10/14 -
6-160856617-G-A SLC22A3 c.976-1195G>A - IntronicSNV - 5/10
16-15129940-C-T PDXDC1 c.2175C>T p.His725His Synonymous 23/23 -
16-15129940-C-A PDXDC1 c.2175C>A p.His725Gln Missense 23/23 -
6-160641856-G-A SLC22A2 c.1602-3326C>T - IntronicSNV - 10/10
3-11400249-C-T ATG7 c.1479+163C>T - IntronicSNV - 13/18
6-160399360-G-T IGF2R c.149+8933G>T - IntronicSNV - 1/47
6-160648267-T-G SLC22A2 c.1502-2431A>C - IntronicSNV - 9/10
6-160819416-A-G SLC22A3 c.533+302A>G - IntronicSNV - 2/10
17-35739996-G-T C17orf78 c.392-2951G>T - IntronicSNV - 3/6
6-160396184-C-T IGF2R c.149+5757C>T - IntronicSNV - 1/47
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
15-44245931-A-T FRMD5 c.103-29424T>A - IntronicSNV - 1/13
6-161071982-G-A LPA c.50-453C>T - IntronicSNV - 1/38
6-159618697-T-C FNDC1 c.304+40T>C - IntronicSNV - 2/22
3-11400249-C-A ATG7 c.1479+163C>A - IntronicSNV - 13/18
6-160411267-A-G IGF2R c.150-949A>G - IntronicSNV - 1/47
6-161071982-G-T LPA c.50-453C>A - IntronicSNV - 1/38
6-160650541-G-A SLC22A2 c.1502-4705C>T - IntronicSNV - 9/10
11-118486067-T-C PHLDB1 c.184+670T>C - IntronicSNV - 4/23
6-160969693-T-G LPA c.4974-2A>C - IntronicSNV - 30/38
1-36277603-G-T AGO4 c.19+3567G>T - IntronicSNV - 1/17
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
6-159618697-T-G FNDC1 c.304+40T>G - IntronicSNV - 2/22
6-160985501-T-C LPA c.4632-6898A>G - IntronicSNV - 28/38
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
6-160793289-G-T SLC22A3 c.429+23409G>T - IntronicSNV - 1/10
6-160793289-G-C SLC22A3 c.429+23409G>C - IntronicSNV - 1/10
6-159683100-C-T FNDC1 c.5254+799C>T - IntronicSNV - 19/22
6-160820701-G-A SLC22A3 c.533+1587G>A - IntronicSNV - 2/10
15-58741884-T-A LIPC c.88+17565T>A - IntronicSNV - 1/8
6-161013013-T-C LPA c.3630-880A>G - IntronicSNV - 22/38
6-161163074-A-T PLG c.2125+625A>T - IntronicSNV - 17/18
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 -
15-58741884-T-C LIPC c.88+17565T>C - IntronicSNV - 1/8
16-66618699-C-T CMTM2 c.286-2201C>T - IntronicSNV - 1/2
19-49206417-A-G FUT2 c.204A>G p.Ala68Ala Synonymous 2/2 -
7-112722196-G-A GPR85 c.*1468C>T - 3-UTRSNV 3/3 -
8-87388776-G-A WWP1 c.70+2427G>A - IntronicSNV - 3/24
6-161004491-G-A LPA c.4289+1587C>T - IntronicSNV - 26/38
2-29550381-A-G ALK c.1414+835T>C - IntronicSNV - 6/28
6-160646587-C-A SLC22A2 c.1502-751G>T - IntronicSNV - 9/10
3-16343023-A-G OXNAD1 c.433-110A>G - IntronicSNV - 6/8
2-29554071-C-T ALK c.1283-2724G>A - IntronicSNV - 5/28
1-186105796-G-T HMCN1 c.13313-4G>T - IntronicSNV - 86/106
6-160872786-C-G SLC22A3 c.*698C>G - 3-UTRSNV 11/11 -
6-161032228-T-A LPA c.2603+366A>T - IntronicSNV - 16/38
6-160865645-G-C SLC22A3 c.1510+871G>C - IntronicSNV - 9/10
9-2640759-A-G VLDLR c.326-618A>G - IntronicSNV - 3/18
6-160858547-G-A SLC22A3 c.1288+304G>A - IntronicSNV - 7/10
21-46875775-G-A COL18A1 c.331G>A p.Gly111Arg Missense 1/41 -
6-160986915-A-C LPA c.4632-8312T>G - IntronicSNV - 28/38
6-160543580-C-G SLC22A1 c.411+202C>G - IntronicSNV - 1/10
6-161032228-T-C LPA c.2603+366A>G - IntronicSNV - 16/38
19-52324216-G-C FPR3 c.1-2786G>C - IntronicSNV - 1/1
19-52324216-G-A FPR3 c.1-2786G>A - IntronicSNV - 1/1
6-161006077-C-T LPA c.4289+1G>A - IntronicSNV - 26/38
7-7452081-G-A COL28A1 c.2136+5409C>T - IntronicSNV - 27/34
6-160820978-G-A SLC22A3 c.533+1864G>A - IntronicSNV - 2/10
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
6-161162290-A-G PLG c.2019-53A>G - IntronicSNV - 16/18
3-54913131-A-G CACNA2D3 c.1782+15A>G - IntronicSNV - 19/37
4-3473139-A-G DOK7 c.101-1994A>G - IntronicSNV - 2/6
17-77223566-T-C RBFOX3 c.-34+8282A>G - intron_variant - 4/14
6-160986280-G-A LPA c.4632-7677C>T - IntronicSNV - 28/38
6-160091836-C-T SOD2 c.*11689G>A - IntergenicSNV 5/5 -
19-8429323-G-A ANGPTL4 c.118G>A p.Glu40Lys Missense 1/7 -
6-160434843-A-AA IGF2R c.513+3026_513+3026dup - IntronicInsertion - 4/47
6-160774459-C-T SLC22A3 c.429+4579C>T - IntronicSNV - 1/10
6-161032149-T-C LPA c.2603+445A>G - IntronicSNV - 16/38
22-46627603-C-T PPARA c.712-86C>T - IntronicSNV - 6/7
6-160545046-C-T SLC22A1 c.411+1668C>T - IntronicSNV - 1/10
16-53809247-G-A FTO c.46-34805G>A - IntronicSNV - 1/8
6-160991737-C-T LPA c.4631+6431G>A - IntronicSNV - 28/38
6-160991737-C-A LPA c.4631+6431G>T - IntronicSNV - 28/38
6-161004797-A-G LPA c.4289+1281T>C - IntronicSNV - 26/38
6-160431017-C-CTTAAA IGF2R c.415-702_415-701insTTAAA - IntronicInsertion - 3/47
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
6-160847571-G-A SLC22A3 c.976-10241G>A - IntronicSNV - 5/10
6-160863532-T-C SLC22A3 c.1289-261T>C - IntronicSNV - 7/10
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
6-161012262-A-G LPA c.3630-129T>C - IntronicSNV - 22/38
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10