PMID: 31636271

A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context.

Nature communications
A Gallois, J Mefford, A Ko, A Vaysse, H Julienne, M Ala-Korpela, M Laakso, N Zaitlen, P Pajukanta, H Aschard
2019-10-21

275 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-47663049-A-G MTCH2 c.87+882T>C - IntronicSNV - 1/12
11-116624703-G-T BUD13 c.1766+3159C>A - IntronicSNV - 9/9
11-61604814-C-A FADS2 c.208-436C>A - IntronicSNV - 1/11
11-61488968-C-T DAGLA c.307+606C>T - IntronicSNV - 3/19
11-61488968-C-A DAGLA c.307+606C>A - IntronicSNV - 3/19
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
2-27741237-T-C GCKR c.1423-418T>C - IntronicSNV - 16/18
15-58847263-T-C LIPC c.1052-5800T>C - IntronicSNV - 6/8
11-61571478-T-C FADS1 c.1054-239A>G - IntronicSNV - 7/11
19-19723215-C-T PBX4 c.119+6105G>A - IntronicSNV - 1/7
11-61616012-A-G FADS2 c.744+256A>G - IntronicSNV - 5/11
16-71607384-T-A TAT c.408+58A>T - IntronicSNV - 4/11
19-45401666-A-G TOMM40 c.644-2321A>G - IntronicSNV - 6/9
16-71607384-T-G TAT c.408+58A>C - IntronicSNV - 4/11
1-63090858-C-T DOCK7 c.1425+72G>A - IntronicSNV - 12/48
16-72048332-T-C DHODH c.235-40T>C - IntronicSNV - 2/8
15-59498881-G-T MYO1E c.1531-1197C>A - IntronicSNV - 14/27
1-55521109-G-C PCSK9 c.800-557G>C - IntronicSNV - 5/11
1-55521109-G-A PCSK9 c.800-557G>A - IntronicSNV - 5/11
1-55518467-A-G PCSK9 c.799+3A>G - IntronicSNV - 5/11
15-58725839-A-G LIPC c.88+1520A>G - IntronicSNV - 1/8
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-62982891-C-A DOCK7 c.3844-3322G>T - IntronicSNV - 30/48
1-62982891-C-T DOCK7 c.3844-3322G>A - IntronicSNV - 30/48
1-63145439-G-A DOCK7 c.38+8459C>T - IntronicSNV - 1/48
9-6011335-T-C RANBP6 c.*955A>G - 3-UTRSNV 1/1 -
20-44569930-C-T PCIF1 c.673+84C>T - IntronicSNV - 7/16
16-72027611-G-T PKD1L3 c.419-380C>A - IntronicSNV - 2/30
1-63056112-G-A DOCK7 c.1683-3817C>T - IntronicSNV - 14/48
11-61597972-A-G FADS2 c.207+1903A>G - IntronicSNV - 1/11
12-56974785-A-G RBMS2 c.543-183A>G - IntronicSNV - 5/13
15-58456850-G-A AQP9 c.112-2022G>A - IntronicSNV - 1/5
12-56935652-G-A RBMS2 c.66+19779G>A - IntronicSNV - 1/13
16-72011181-G-T PKD1L3 c.1713C>A p.His571Gln Missense 11/31 -
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
16-72011181-G-C PKD1L3 c.1713C>G p.His571Gln Missense 11/31 -
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
15-58740094-C-G LIPC c.88+15775C>G - IntronicSNV - 1/8
1-109817192-A-G CELSR2 c.*521A>G - 3-UTRSNV 34/34 -
5-126224390-T-C MARCH3 c.394-10304A>G - IntronicSNV - 3/4
2-21231524-G-T APOB c.8216C>A p.Pro2739Gln Missense 26/29 -
15-58743709-C-T LIPC c.88+19390C>T - IntronicSNV - 1/8
12-56924116-G-A RBMS2 c.66+8243G>A - IntronicSNV - 1/13
2-27742603-T-C GCKR c.1572+799T>C - IntronicSNV - 17/18
12-56876372-C-A GLS2 c.183-2201G>T - IntronicSNV - 1/17
12-56865338-A-G GLS2 c.1742T>C p.Leu581Pro Missense 18/18 -
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
15-59295224-C-T RNF111 c.-20+14957C>T - intron_variant - 1/13
15-59507679-C-T MYO1E c.1108-760G>A - IntronicSNV - 10/27
4-74846661-C-A PF4 c.*260G>T - 3-UTRSNV 3/3 -
5-126220091-T-C MARCH3 c.394-6005A>G - IntronicSNV - 3/4
8-19824563-T-C LPL c.*1742T>C - 3-UTRSNV 10/10 -
12-96315915-A-G CCDC38 c.38-3161T>C - IntronicSNV - 2/15
16-57009388-G-T CETP c.981+325G>T - IntronicSNV - 10/15
16-57009388-G-A CETP c.981+325G>A - IntronicSNV - 10/15
16-71668634-T-G MARVELD3 c.1134T>G p.Ala378Ala Synonymous 3/3 -
9-6219176-G-C IL33 c.-12+3324G>C - intron_variant - 1/7
16-72144174-T-G DHX38 c.3478-681T>G - IntronicSNV - 25/26
11-61618831-T-C FADS2 c.744+3075T>C - IntronicSNV - 5/11
16-81074800-A-C ATMIN c.337-161A>C - IntronicSNV - 1/3
16-81074800-A-G ATMIN c.337-161A>G - IntronicSNV - 1/3
16-81122861-C-T GCSH c.228+1345G>A - IntronicSNV - 2/4
11-61490880-C-A DAGLA c.410-26C>A - IntronicSNV - 4/19
16-71509779-C-T ZNF19 c.671G>A p.Arg224Gln Missense 6/6 -
16-31343769-T-A ITGAM c.*741T>A - 3-UTRSNV 30/30 -
11-116707684-A-C APOA1 c.200+33T>G - IntronicSNV - 3/3
11-116707684-A-G APOA1 c.200+33T>C - IntronicSNV - 3/3
12-56879548-C-T GLS2 c.182+2173G>A - IntronicSNV - 1/17
12-56838745-G-A TIMELESS c.-62+4349C>T - intron_variant - 1/28
6-111674350-C-T REV3L c.7185-1356G>A - IntronicSNV - 19/32
11-47539697-T-C CELF1 c.1-29131A>G - IntronicSNV - 1/13
7-73012042-G-A MLXIPL c.1073C>T p.Ala358Val Missense 9/17 -
1-62905893-C-T USP1 c.170+185C>T - IntronicSNV - 2/8
11-61641542-G-T FADS3 c.1287-205C>A - IntronicSNV - 11/11
15-59353863-C-A RNF111 c.1366+3114C>A - IntronicSNV - 5/13
11-61647288-G-A FADS3 c.324+225C>T - IntronicSNV - 2/11
1-230279410-G-A GALNT2 c.127-34554G>A - IntronicSNV - 1/15
9-5966898-T-C KIAA2026 c.2212+1121A>G - IntronicSNV - 3/7
1-63135127-G-A DOCK7 c.39-6326C>T - IntronicSNV - 1/48
1-55520864-A-G PCSK9 c.800-802A>G - IntronicSNV - 5/11
1-63072265-A-T DOCK7 c.1682+12112T>A - IntronicSNV - 14/48
1-63072265-A-C DOCK7 c.1682+12112T>G - IntronicSNV - 14/48
12-96336039-C-T CCDC38 c.-15+170G>A - intron_variant - 1/15
16-71902142-C-A ZNF821 c.41-3191G>T - IntronicSNV - 2/5
16-72894840-C-T ZFHX3 c.3448+28790G>A - IntronicSNV - 4/9
16-71988728-T-G PKD1L3 c.2613-528A>C - IntronicSNV - 16/30
16-72894840-C-A ZFHX3 c.3448+28790G>T - IntronicSNV - 4/9
15-58724524-A-G LIPC c.88+205A>G - IntronicSNV - 1/8
9-6219176-G-T IL33 c.-12+3324G>T - intron_variant - 1/7
12-121424574-G-A HNF1A c.327-2062G>A - IntronicSNV - 1/9
12-56931278-C-T RBMS2 c.66+15405C>T - IntronicSNV - 1/13
12-121424574-G-C HNF1A c.327-2062G>C - IntronicSNV - 1/9
4-89204093-C-T PPM1K c.-60+1465G>A - intron_variant - 1/6
16-71936733-A-G IST1 c.-16+7241A>G - intron_variant - 1/9
11-116730638-A-G SIK3 c.2282-318T>C - intron_variant - 18/23
15-58855748-C-T LIPC c.1214C>T p.Thr405Met Missense 8/9 -
15-58455198-T-C AQP9 c.112-3674T>C - IntronicSNV - 1/5
1-230301776-G-C GALNT2 c.127-12188G>C - IntronicSNV - 1/15
10-56015656-G-A PCDH15 c.877-18965C>T - IntronicSNV - 8/32
1-230304988-A-G GALNT2 c.127-8976A>G - IntronicSNV - 1/15
16-71716524-A-G PHLPP2 c.736-716T>C - IntronicSNV - 5/18
16-71936733-A-T IST1 c.-16+7241A>T - intron_variant - 1/9
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
12-121420260-A-G HNF1A c.326+3363A>G - IntronicSNV - 1/9
11-61655305-A-G FADS3 c.213+3336T>C - IntronicSNV - 1/11
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
12-56961932-C-T RBMS2 c.234-827C>T - IntronicSNV - 2/13
15-58740094-C-T LIPC c.88+15775C>T - IntronicSNV - 1/8
2-27910706-A-C SLC4A1AP c.2117-95A>C - IntronicSNV - 10/13
1-62921586-T-C DOCK7 c.6288-459A>G - IntronicSNV - 48/48
1-230313911-T-C GALNT2 c.127-53T>C - IntronicSNV - 1/15
12-56846490-C-T MIP c.606+366G>A - IntronicSNV - 3/3
6-111451467-A-G SLC16A10 c.343+42169A>G - IntronicSNV - 1/5
2-27720471-GC-TG GCKR c.259_260delGCinsTG p.Ala87Cys Missense 3/19 -
11-61551356-T-C MYRF c.3033T>C p.Ser1011Ser Synonymous 23/26 -
1-230301776-G-A GALNT2 c.127-12188G>A - IntronicSNV - 1/15
1-62980607-G-A DOCK7 c.3844-1038C>T - IntronicSNV - 30/48
2-27574953-T-C GTF3C2 c.-25+4653A>G - intron_variant - 1/18
9-5899749-T-G MLANA c.174+2096T>G - IntronicSNV - 3/4
4-89203042-G-A PPM1K c.-60+2516C>T - intron_variant - 1/6
9-5899749-T-C MLANA c.174+2096T>C - IntronicSNV - 3/4
15-58859395-G-A LIPC c.1389-1520G>A - IntronicSNV - 8/8
14-93200599-G-A LGMN c.1-1468C>T - IntronicSNV - 1/13
16-71917058-G-A ZNF821 c.-78+56C>T - intron_variant - 1/5
9-5956318-G-A KIAA2026 c.2213-2223C>T - IntronicSNV - 3/7
16-72011193-A-C PKD1L3 c.1701T>G p.Pro567Pro Synonymous 11/31 -
1-63103217-A-G DOCK7 c.819-943T>C - IntronicSNV - 7/48
16-71803974-G-A AP1G1 c.566-372C>T - IntronicSNV - 5/23
2-211501333-G-T CPS1 c.2688-1093G>T - intron_variant - 22/38
16-81079641-G-A ATMIN c.*1066G>A - 3-UTRSNV 4/4 -
15-58729144-C-T LIPC c.88+4825C>T - IntronicSNV - 1/8
11-61547237-C-T MYRF c.2221-77C>T - IntronicSNV - 16/25
16-71668634-T-A MARVELD3 c.1134T>A p.Ala378Ala Synonymous 3/3 -
16-72043039-C-T DHODH c.21+355C>T - IntronicSNV - 1/8
12-96326272-T-C CCDC38 c.37+3979A>G - IntronicSNV - 2/15
12-56974785-A-T RBMS2 c.543-183A>T - IntronicSNV - 5/13
5-126325510-C-T MARCH3 c.-57+40532G>A - intron_variant - 1/4
11-68562328-C-T CPT1A c.823G>A p.Ala275Thr Missense 8/19 -
11-61609750-C-T FADS2 c.618+1553C>T - IntronicSNV - 4/11
15-58738760-G-A LIPC c.88+14441G>A - IntronicSNV - 1/8
11-68562328-C-G CPT1A c.823G>C p.Ala275Pro Missense 8/19 -
12-56956213-T-C RBMS2 c.79T>C p.Leu27Leu Synonymous 2/14 -
15-59377446-C-T RNF111 c.2424-412C>T - IntronicSNV - 9/13
16-72144174-T-C DHX38 c.3478-681T>C - IntronicSNV - 25/26
12-103275901-C-T PAH c.353-4573G>A - IntronicSNV - 3/12
15-59347929-C-A RNF111 c.1056C>A p.Ser352Ser Synonymous 4/14 -
1-230291868-T-C GALNT2 c.127-22096T>C - IntronicSNV - 1/15
16-71679204-C-T PHLPP2 c.*3589G>A - 3-UTRSNV 19/19 -
12-121420260-A-C HNF1A c.326+3363A>C - IntronicSNV - 1/9
11-61571348-C-T FADS1 c.1054-109G>A - IntronicSNV - 7/11
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
11-61500487-C-T DAGLA c.974+1574C>T - IntronicSNV - 9/19
16-57007451-G-A CETP c.930+29G>A - IntronicSNV - 9/15
15-58737341-T-A LIPC c.88+13022T>A - IntronicSNV - 1/8
15-58737341-T-G LIPC c.88+13022T>G - IntronicSNV - 1/8
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 -
16-71837477-T-G AP1G1 c.-4+5189A>C - intron_variant - 1/23
11-61624705-T-C FADS2 c.805+162T>C - IntronicSNV - 6/11
11-47807774-T-C NUP160 c.3848+231A>G - IntronicSNV - 32/35
5-126224390-T-G MARCH3 c.394-10304A>C - IntronicSNV - 3/4
1-62912919-C-T USP1 c.1250-93C>T - IntronicSNV - 6/8
19-11560347-T-G PRKCSH c.*120T>G - IntronicSNV - 17/17
16-72011261-A-G PKD1L3 c.1633T>C p.Leu545Leu Synonymous 11/31 -
16-71791798-C-T AP1G1 c.1097+913G>A - IntronicSNV - 12/23
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
15-59304635-C-T RNF111 c.1-18387C>T - IntronicSNV - 1/13
1-55518316-C-T PCSK9 c.658-7C>T - IntronicSNV - 4/11
20-44534651-G-A PLTP c.705+256C>T - IntronicSNV - 8/15
12-96330581-G-A CCDC38 c.1-294C>T - IntronicSNV - 1/15
8-19824492-T-C LPL c.*1671T>C - 3-UTRSNV 10/10 -
8-19824492-T-A LPL c.*1671T>A - 3-UTRSNV 10/10 -
10-102075479-G-A PKD2L1 c.349+13489C>T - IntronicSNV - 2/15
12-96330581-G-T CCDC38 c.1-294C>A - IntronicSNV - 1/15
12-56933651-G-T RBMS2 c.66+17778G>T - IntronicSNV - 1/13
16-72154682-G-T PMFBP1 c.2769-694C>A - IntronicSNV - 19/20
12-56933651-G-A RBMS2 c.66+17778G>A - IntronicSNV - 1/13
1-230299949-T-C GALNT2 c.127-14015T>C - IntronicSNV - 1/15
1-62916796-T-C USP1 c.*144T>C - 3-UTRSNV 9/9 -
15-59458663-T-C MYO1E c.2481-3161A>G - IntronicSNV - 22/27
16-57017474-G-A CETP c.1408-30G>A - IntronicSNV - 15/15
16-81128230-G-A GCSH c.148+1506C>T - IntronicSNV - 1/4
16-71678932-T-C PHLPP2 c.*3861A>G - 3-UTRSNV 19/19 -
4-89187068-G-C PPM1K c.853-781C>G - IntronicSNV - 5/6
11-61342696-C-T SYT7 c.31+5566G>A - IntronicSNV - 1/8
5-126267351-C-T MARCH3 c.1-13488G>A - IntronicSNV - 1/4
11-61597212-C-T FADS2 c.207+1143C>T - IntronicSNV - 1/11
15-58730498-C-G LIPC c.88+6179C>G - IntronicSNV - 1/8
15-58730498-C-T LIPC c.88+6179C>T - IntronicSNV - 1/8
2-210849283-T-C UNC80 c.9044+2242T>C - IntronicSNV - 59/62
15-58446034-C-A AQP9 c.112-12838C>A - IntronicSNV - 1/5
6-111919334-A-G TRAF3IP2 c.1-6045T>C - IntronicSNV - 1/8
11-61678576-T-G RAB3IL1 c.12-2798A>C - IntronicSNV - 1/9
1-230304988-A-C GALNT2 c.127-8976A>C - IntronicSNV - 1/15
11-61494327-G-A DAGLA c.636+773G>A - IntronicSNV - 6/19
16-71803974-G-C AP1G1 c.566-372C>G - IntronicSNV - 5/23
2-27801493-T-C C2orf16 c.2054T>C p.Val685Ala Missense 1/1 -
11-47529947-C-A CELF1 c.1-19381G>T - IntronicSNV - 1/13
1-55608005-C-T USP24 c.2634+410G>A - IntronicSNV - 23/67
11-61570783-T-C FADS1 c.1248+52A>G - IntronicSNV - 9/11
15-59505191-C-T MYO1E c.1275+1236G>A - IntronicSNV - 12/27
4-89197519-C-A PPM1K c.541+776G>T - IntronicSNV - 3/6
16-72001136-G-A PKD1L3 c.2365C>T p.Arg789* Nonsense 15/31 -
11-61627881-T-C FADS2 c.883-2563T>C - IntronicSNV - 7/11
11-61571348-C-G FADS1 c.1054-109G>C - IntronicSNV - 7/11
6-111919462-G-A TRAF3IP2 c.1-6173C>T - IntronicSNV - 1/8
11-61629322-T-C FADS2 c.883-1122T>C - IntronicSNV - 7/11
11-116731205-G-A SIK3 c.2281+785C>T - intron_variant - 18/23
11-61548559-A-G MYRF c.2467+42A>G - IntronicSNV - 19/25
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
19-45410002-G-A APOE c.43+78G>A - IntronicSNV - 2/3
15-59486640-A-G MYO1E c.1805+1020T>C - IntronicSNV - 17/27
1-55538552-T-G USP24 c.7527-18A>C - IntronicSNV - 64/67
16-72027611-G-C PKD1L3 c.419-380C>G - IntronicSNV - 2/30
6-111674350-C-A REV3L c.7185-1356G>T - IntronicSNV - 19/32
8-19819536-T-G LPL c.1323-90T>G - IntronicSNV - 8/9
15-59453384-T-C MYO1E c.2673A>G p.Ala891Ala Synonymous 24/28 -
11-92708710-C-G MTNR1B c.223+5596C>G - IntronicSNV - 1/1
11-61614023-C-T FADS2 c.619-1608C>T - IntronicSNV - 4/11
11-116621963-T-G BUD13 c.1767-2672A>C - IntronicSNV - 9/9
16-72027611-G-A PKD1L3 c.419-380C>T - IntronicSNV - 2/30
11-61656117-G-C FADS3 c.213+2524C>G - IntronicSNV - 1/11
4-89196821-A-G PPM1K c.541+1474T>C - IntronicSNV - 3/6
11-61656117-G-A FADS3 c.213+2524C>T - IntronicSNV - 1/11
5-126208890-T-C MARCH3 c.604-2407A>G - IntronicSNV - 4/4
11-116650118-C-T ZPR1 c.1246-343G>A - IntronicSNV - 13/13
19-45373565-G-A NECTIN2 c.479-1545G>A - IntronicSNV - 2/5
8-19824667-C-T LPL c.*1846C>T - 3-UTRSNV 10/10 -
15-58730889-A-G LIPC c.88+6570A>G - IntronicSNV - 1/8
2-27730940-T-C GCKR c.1337T>C p.Leu446Pro Missense 15/19 -
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
16-57002732-T-G CETP c.234-566T>G - IntronicSNV - 2/15
9-6011757-G-A RANBP6 c.*533C>T - 3-UTRSNV 1/1 -
9-6011757-G-C RANBP6 c.*533C>G - 3-UTRSNV 1/1 -
15-59476088-A-C MYO1E c.1904+4229T>G - IntronicSNV - 18/27
11-61551356-T-G MYRF c.3033T>G p.Ser1011Arg Missense 23/26 -
11-61551356-T-A MYRF c.3033T>A p.Ser1011Arg Missense 23/26 -
19-45395266-G-A TOMM40 c.274+320G>A - IntronicSNV - 2/9
12-103245802-A-G PAH c.843-268T>C - IntronicSNV - 7/12
3-125883511-C-T ALDH1L1 c.1-3689G>A - IntronicSNV - 1/22
11-61569830-C-T FADS1 c.*53G>A - 3-UTRSNV 12/12 -
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
15-58735449-T-C LIPC c.88+11130T>C - IntronicSNV - 1/8
12-96323420-G-A CCDC38 c.37+6831C>T - IntronicSNV - 2/15
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
2-211543147-T-G CPS1 c.*438T>G - 3-UTRSNV 39/39 -
11-47648042-G-A MTCH2 c.681+590C>T - IntronicSNV - 10/12
16-71697752-T-C PHLPP2 c.1985+50A>G - IntronicSNV - 13/18
1-55085141-A-G ACOT11 c.1630-11266A>G - IntronicSNV - 15/16
1-63020816-C-A DOCK7 c.2596+680G>T - IntronicSNV - 21/48
1-109817838-T-C CELSR2 c.*1167T>C - 3-UTRSNV 34/34 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
16-31343769-T-C ITGAM c.*741T>C - 3-UTRSNV 30/30 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
15-59368167-G-A RNF111 c.1701G>A p.Val567Val Synonymous 7/14 -
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
19-11571287-C-G ELAVL3 c.334-1861G>C - IntronicSNV - 3/6
2-27730940-T-G GCKR c.1337T>G p.Leu446Arg Missense 15/19 -
11-61548874-G-A MYRF c.2659+73G>A - IntronicSNV - 20/25
6-111698204-T-C REV3L c.1598-244A>G - IntronicSNV - 13/32
11-61603510-C-T FADS2 c.208-1740C>T - IntronicSNV - 1/11
1-230297659-C-T GALNT2 c.127-16305C>T - IntronicSNV - 1/15
16-72011193-A-T PKD1L3 c.1701T>A p.Pro567Pro Synonymous 11/31 -
4-89201007-T-G PPM1K c.1-1272A>C - IntronicSNV - 1/6
11-61557803-T-C TMEM258 c.113+162A>G - IntronicSNV - 2/3
11-61603237-C-T FADS2 c.208-2013C>T - IntronicSNV - 1/11
4-89201007-T-A PPM1K c.1-1272A>T - IntronicSNV - 1/6
11-61603510-C-A FADS2 c.208-1740C>A - IntronicSNV - 1/11
16-71773190-G-C AP1G1 c.2063C>G p.Pro688Arg Missense 21/24 -
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
16-71773190-G-A AP1G1 c.2063C>T p.Pro688Leu Missense 21/24 -
16-71773190-G-T AP1G1 c.2063C>A p.Pro688His Missense 21/24 -
16-71509779-C-A ZNF19 c.671G>T p.Arg224Leu Missense 6/6 -