PMID: 28438747

Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

BMJ (Clinical research ed.)
M Benn, BG Nordestgaard, R Frikke-Schmidt, A Tybjærg-Hansen
2017-04-24

296 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-109813719-C-T CELSR2 c.7596+58C>T - IntronicSNV - 25/33
17-45479446-A-C EFCAB13 c.1946-52A>C - IntronicSNV - 17/24
1-220985350-T-C MARC1 c.888-1284T>C - IntronicSNV - 6/6
19-44934842-G-A ZNF229 c.239-125C>T - IntronicSNV - 5/5
19-11166827-G-A SMARCA4 c.4425-2104G>A - IntronicSNV - 30/34
1-62905893-C-T USP1 c.170+185C>T - IntronicSNV - 2/8
6-160998148-G-T LPA c.4631+20C>A - IntronicSNV - 28/38
11-61626921-G-T FADS2 c.882+1919G>T - IntronicSNV - 7/11
1-109814880-C-T CELSR2 c.7927-20C>T - IntronicSNV - 28/33
1-55520864-A-G PCSK9 c.800-802A>G - IntronicSNV - 5/11
19-45150433-G-A PVR c.80-62G>A - IntronicSNV - 1/7
11-61623793-G-A FADS2 c.745-690G>A - IntronicSNV - 5/11
2-44048346-C-T ABCG5 c.1464-1107G>A - IntronicSNV - 10/12
1-63135127-G-A DOCK7 c.39-6326C>T - IntronicSNV - 1/48
17-45422628-A-G EFCAB13 c.517+164A>G - IntronicSNV - 8/24
19-10728320-A-C SLC44A2 c.32-8609A>C - IntronicSNV - 1/21
19-10728320-A-G SLC44A2 c.32-8609A>G - IntronicSNV - 1/21
12-121419056-T-C HNF1A c.326+2159T>C - IntronicSNV - 1/9
2-21257927-T-C APOB c.819-154A>G - IntronicSNV - 7/28
11-61617676-T-A FADS2 c.744+1920T>A - IntronicSNV - 5/11
19-11139636-G-T SMARCA4 c.3382+1010G>T - IntronicSNV - 24/34
11-61617676-T-G FADS2 c.744+1920T>G - IntronicSNV - 5/11
19-10904689-G-A DNM2 c.1128+158G>A - IntronicSNV - 8/19
1-109794252-T-G CELSR2 c.1551T>G p.Ser517Arg Missense 1/34 -
1-55047724-G-A ACOT11 c.34-2604G>A - IntronicSNV - 1/16
1-55044940-C-T ACOT11 c.34-5388C>T - IntronicSNV - 1/16
6-161084156-A-G LPA c.49+1042T>C - IntronicSNV - 1/38
12-121424574-G-A HNF1A c.327-2062G>A - IntronicSNV - 1/9
12-121424574-G-C HNF1A c.327-2062G>C - IntronicSNV - 1/9
20-39713352-A-C TOP1 c.614+144A>C - IntronicSNV - 8/20
1-55513061-T-C PCSK9 c.523+742T>C - IntronicSNV - 3/11
20-39913632-C-G ZHX3 c.-245+14974G>C - intron_variant - 1/3
19-11159096-G-T SMARCA4 c.4424+6860G>T - IntronicSNV - 30/34
6-160963230-T-C LPA c.5519+490A>G - IntronicSNV - 34/38
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
5-74955841-G-A ANKDD1B c.1095+635G>A - IntronicSNV - 10/13
2-20932743-G-T LDAH c.703+6988C>A - IntronicSNV - 5/6
20-39911385-A-G ZHX3 c.-244-13662T>C - intron_variant - 1/3
1-109871787-T-G SORT1 c.1372-1564A>C - IntronicSNV - 11/19
9-136142217-T-G ABO c.29-4646A>C - IntronicSNV - 1/7
1-109877506-A-G SORT1 c.1371+1356T>C - IntronicSNV - 11/19
1-55060548-C-T ACOT11 c.607+184C>T - IntronicSNV - 6/16
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
20-39856080-A-C ZHX3 c.1-22524T>G - IntronicSNV - 2/3
5-74648496-G-T HMGCR c.1368+1069G>T - IntronicSNV - 11/19
19-11159525-G-A SMARCA4 c.4424+7289G>A - IntronicSNV - 30/34
7-44573761-C-G NPC1L1 c.2166+285G>C - IntronicSNV - 6/19
8-59353534-C-T UBXN2B c.671+1205C>T - IntronicSNV - 6/7
1-55052031-G-T ACOT11 c.311+454G>T - IntronicSNV - 3/16
1-55052031-G-A ACOT11 c.311+454G>A - IntronicSNV - 3/16
11-61611694-G-A FADS2 c.618+3497G>A - IntronicSNV - 4/11
20-39709255-T-C TOP1 c.431+435T>C - IntronicSNV - 6/20
1-55052071-G-C ACOT11 c.311+494G>C - IntronicSNV - 3/16
1-55052071-G-A ACOT11 c.311+494G>A - IntronicSNV - 3/16
1-55052071-G-T ACOT11 c.311+494G>T - IntronicSNV - 3/16
20-39797465-T-C PLCG1 c.2438T>C p.Ile813Thr Missense 21/32 -
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -
19-11072610-G-C SMARCA4 c.-32+760G>C - intron_variant - 1/34
19-11147615-G-A SMARCA4 c.4170+1807G>A - IntronicSNV - 29/34
20-39970307-T-C LPIN3 c.-9+665T>C - intron_variant - 1/19
20-39970307-T-G LPIN3 c.-9+665T>G - intron_variant - 1/19
1-63112320-C-G DOCK7 c.818+1042G>C - IntronicSNV - 7/48
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
1-63034363-A-C DOCK7 c.2113-6989T>G - IntronicSNV - 18/48
5-74876613-T-C POLK c.695-421T>C - IntronicSNV - 6/14
1-55048942-G-C ACOT11 c.34-1386G>C - IntronicSNV - 1/16
11-61547237-C-T MYRF c.2221-77C>T - IntronicSNV - 16/25
5-74898752-T-C POLK c.*4909T>C - IntergenicSNV 15/15 -
19-11163601-G-T SMARCA4 c.4425-5330G>T - IntronicSNV - 30/34
11-61609750-C-T FADS2 c.618+1553C>T - IntronicSNV - 4/11
6-116351724-G-T FRK c.345-26563C>A - IntronicSNV - 1/7
11-61629122-G-A FADS2 c.883-1322G>A - IntronicSNV - 7/11
20-39974316-A-G LPIN3 c.1-128A>G - IntronicSNV - 1/19
19-45150614-G-A PVR c.199G>A p.Ala67Thr Missense 2/8 -
10-113939584-G-A GPAM c.225+647C>T - IntronicSNV - 4/21
5-156470401-C-T HAVCR1 c.782-708G>A - IntronicSNV - 4/7
16-72043039-C-T DHODH c.21+355C>T - IntronicSNV - 1/8
1-55048098-C-G ACOT11 c.34-2230C>G - IntronicSNV - 1/16
1-109887191-T-C SORT1 c.963+1182A>G - IntronicSNV - 8/19
2-21226560-A-G APOB c.12088-354T>C - IntronicSNV - 28/28
9-136149722-A-C ABO c.28+856T>G - IntronicSNV - 1/7
9-136149722-A-G ABO c.28+856T>C - IntronicSNV - 1/7
6-116354591-C-T FRK c.344+26540G>A - IntronicSNV - 1/7
19-49206108-C-G FUT2 c.1-106C>G - IntronicSNV - 1/1
11-126246076-T-C ST3GAL4 c.-61+19879T>C - intron_variant - 1/10
11-126246076-T-A ST3GAL4 c.-61+19879T>A - intron_variant - 1/10
12-121432302-T-A HNF1A c.955+94T>A - IntronicSNV - 4/9
12-121432302-T-G HNF1A c.955+94T>G - IntronicSNV - 4/9
1-63112389-A-G DOCK7 c.818+973T>C - IntronicSNV - 7/48
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
1-110049127-G-T AMIGO1 c.*926C>A - IntergenicSNV 2/2 -
1-110049127-G-C AMIGO1 c.*926C>G - IntergenicSNV 2/2 -
17-45385640-T-C ITGB3 c.2301+637T>C - IntronicSNV - 14/14
20-39916401-A-T ZHX3 c.-245+12205T>A - intron_variant - 1/3
6-116337503-G-A FRK c.345-12342C>T - IntronicSNV - 1/7
5-74984818-A-T POC5 c.1054+19T>A - IntronicSNV - 8/10
1-55048942-G-T ACOT11 c.34-1386G>T - IntronicSNV - 1/16
5-156473185-A-T HAVCR1 c.781+2864T>A - IntronicSNV - 4/7
16-57006378-A-G CETP c.750+383A>G - IntronicSNV - 8/15
5-156473185-A-G HAVCR1 c.781+2864T>C - IntronicSNV - 4/7
5-74736065-A-C COL4A3BP c.349-13762T>G - IntronicSNV - 3/17
5-74384115-A-G ANKRD31 c.5301+2971T>C - IntronicSNV - 22/24
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 -
12-112245170-A-C ALDH2 c.1522-2177A>C - IntronicSNV - 12/12
2-21241744-C-T APOB c.3121+120G>A - IntronicSNV - 20/28
1-63049819-G-A DOCK7 c.1801-894C>T - IntronicSNV - 15/48
12-111910219-A-G ATXN2 c.2519-1673T>C - intron_variant - 18/24
5-74692776-A-T COL4A3BP c.1188+2359T>A - IntronicSNV - 11/17
19-11256285-A-G SPC24 c.*1574T>C - IntergenicSNV 5/5 -
5-74917862-A-G ANKDD1B c.396+1624A>G - IntronicSNV - 3/13
1-55050632-C-T ACOT11 c.241+97C>T - IntronicSNV - 2/16
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
12-121423956-C-T HNF1A c.327-2680C>T - IntronicSNV - 1/9
19-10927100-G-A DNM2 c.1660-3556G>A - IntronicSNV - 14/19
2-21263639-T-G APOB c.383+171A>C - IntronicSNV - 4/28
1-55059295-C-A ACOT11 c.373-319C>A - IntronicSNV - 4/16
1-55046039-G-C ACOT11 c.34-4289G>C - IntronicSNV - 1/16
1-220976257-A-C MARC1 c.754-2137A>C - IntronicSNV - 4/6
1-55662680-C-T USP24 c.324+17783G>A - IntronicSNV - 1/67
6-161007538-G-C LPA c.4072C>G p.Leu1358Val Missense 25/39 -
5-74499631-A-G ANKRD31 c.403+2605T>C - IntronicSNV - 5/24
1-55656075-G-T USP24 c.325-12270C>A - IntronicSNV - 1/67
11-61571382-G-A FADS1 c.1054-143C>T - IntronicSNV - 7/11
5-74962242-A-G ANKDD1B c.1192-375A>G - IntronicSNV - 11/13
1-109705022-A-G KIAA1324 c.274+386A>G - IntronicSNV - 2/21
1-63061906-C-T DOCK7 c.1683-9611G>A - IntronicSNV - 14/48
19-10927100-G-C DNM2 c.1660-3556G>C - IntronicSNV - 14/19
19-10909953-C-T DNM2 c.1422+705C>T - IntronicSNV - 11/19
6-161017120-G-A LPA c.3288-553C>T - IntronicSNV - 20/38
11-61597212-C-T FADS2 c.207+1143C>T - IntronicSNV - 1/11
5-74372141-T-C ANKRD31 c.5476+4252A>G - IntronicSNV - 24/24
6-160564476-C-G SLC22A1 c.1277-97C>G - IntronicSNV - 7/10
1-55045983-G-A ACOT11 c.34-4345G>A - IntronicSNV - 1/16
1-55045983-G-C ACOT11 c.34-4345G>C - IntronicSNV - 1/16
19-10916684-C-G DNM2 c.1545+41C>G - IntronicSNV - 13/19
19-11206530-T-A LDLR c.68-4369T>A - IntronicSNV - 1/17
11-116647607-C-T ZPR1 c.*2034G>A - IntergenicSNV 14/14 -
16-72018417-T-C PKD1L3 c.835-351A>G - IntronicSNV - 5/30
20-39782899-A-G PLCG1 c.218-5347A>G - IntronicSNV - 1/31
1-55042648-C-T ACOT11 c.34-7680C>T - IntronicSNV - 1/16
6-160574535-C-A SLC22A1 c.1386-1295C>A - IntronicSNV - 8/10
6-161007538-G-T LPA c.4072C>A p.Leu1358Ile Missense 25/39 -
19-11159525-G-T SMARCA4 c.4424+7289G>T - IntronicSNV - 30/34
11-61605613-C-T FADS2 c.318+253C>T - IntronicSNV - 2/11
8-145047187-A-G PLEC c.193+2158T>C - IntronicSNV - 2/32
20-39769975-T-C PLCG1 c.217+3477T>C - IntronicSNV - 1/31
1-55045039-G-A ACOT11 c.34-5289G>A - IntronicSNV - 1/16
1-63113719-T-C DOCK7 c.732+58A>G - IntronicSNV - 6/48
12-121442670-T-C C12orf43 c.452+136A>G - IntronicSNV - 5/5
5-74867581-T-G POLK c.409-1982T>G - IntronicSNV - 4/14
13-32963707-C-T BRCA2 c.9257-5119C>T - IntronicSNV - 24/26
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 -
12-121442670-T-A C12orf43 c.452+136A>T - IntronicSNV - 5/5
5-75003678-T-C POC5 c.32A>G p.His11Arg Missense 2/11 -
1-55060362-G-A ACOT11 c.605G>A p.Gly202Asp Missense 6/17 -
11-116621963-T-G BUD13 c.1767-2672A>C - IntronicSNV - 9/9
5-75003678-T-A POC5 c.32A>T p.His11Leu Missense 2/11 -
6-161012749-C-T LPA c.3630-616G>A - IntronicSNV - 22/38
11-116722041-G-C SIK3 c.3512-2042C>G - intron_variant - 20/23
1-55051899-A-C ACOT11 c.311+322A>C - IntronicSNV - 3/16
1-109794252-T-C CELSR2 c.1551T>C p.Ser517Ser Synonymous 1/34 -
11-116722041-G-T SIK3 c.3512-2042C>A - intron_variant - 20/23
10-113937941-G-T GPAM c.226-126C>A - IntronicSNV - 4/21
10-113937941-G-C GPAM c.226-126C>G - IntronicSNV - 4/21
10-113937941-G-A GPAM c.226-126C>T - IntronicSNV - 4/21
11-61611694-G-T FADS2 c.618+3497G>T - IntronicSNV - 4/11
8-145000056-T-C PLEC c.4126-4A>G - IntronicSNV - 31/32
5-156376703-A-T TIMD4 c.719T>A p.Val240Asp Missense 4/9 -
19-11263650-G-A SPC24 c.160+2643C>T - IntronicSNV - 1/4
20-39746403-A-G TOP1 c.1823-406A>G - IntronicSNV - 17/20
11-116658031-T-G ZPR1 c.333+167A>C - IntronicSNV - 2/13
19-11263650-G-T SPC24 c.160+2643C>A - IntronicSNV - 1/4
19-45373565-G-A NECTIN2 c.479-1545G>A - IntronicSNV - 2/5
1-109871787-T-C SORT1 c.1372-1564A>G - IntronicSNV - 11/19
5-74988369-A-T POC5 c.616-44T>A - IntronicSNV - 5/10
5-75008193-T-C POC5 c.9+8A>G - IntronicSNV - 1/10
5-74988369-A-G POC5 c.616-44T>C - IntronicSNV - 5/10
19-45372354-T-G NECTIN2 c.479-2756T>G - IntronicSNV - 2/5
1-55046039-G-T ACOT11 c.34-4289G>T - IntronicSNV - 1/16
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
5-74924890-A-G ANKDD1B c.600+3110A>G - IntronicSNV - 5/13
5-74692776-A-G COL4A3BP c.1188+2359T>C - IntronicSNV - 11/17
11-126248211-A-T ST3GAL4 c.-61+22014A>T - intron_variant - 1/10
8-145058986-A-G PARP10 c.1184T>C p.Leu395Pro Missense 5/11 -
9-136143442-A-G ABO c.29-5871T>C - IntronicSNV - 1/7
5-75003056-A-G POC5 c.148+506T>C - IntronicSNV - 2/10
2-44022970-T-C DYNC2LI1 c.508-59T>C - IntronicSNV - 6/12
5-74956517-C-T ANKDD1B c.1095+1311C>T - IntronicSNV - 10/13
19-11161537-C-A SMARCA4 c.4425-7394C>A - IntronicSNV - 30/34
20-39913632-C-T ZHX3 c.-245+14974G>A - intron_variant - 1/3
5-74696638-C-G COL4A3BP c.1018-516G>C - IntronicSNV - 9/17
1-109817838-T-C CELSR2 c.*1167T>C - 3-UTRSNV 34/34 -
2-21240364-A-G APOB c.3122-843T>C - IntronicSNV - 20/28
12-121446446-T-G C12orf43 c.287+2185A>C - IntronicSNV - 3/5
19-19505087-C-T GATAD2A c.-7+8140C>T - intron_variant - 1/11
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
12-111993886-A-G ATXN2 c.252-163T>C - intron_variant - 1/24
16-56999328-C-T CETP c.233+2292C>T - IntronicSNV - 2/15
16-72044238-G-C DHODH c.21+1554G>C - IntronicSNV - 1/8
1-55057958-G-A ACOT11 c.312-261G>A - IntronicSNV - 3/16
20-39664665-T-C TOP1 c.58+6570T>C - IntronicSNV - 2/20
11-116652301-C-T ZPR1 c.1179+573G>A - IntronicSNV - 12/13
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
19-10916684-C-T DNM2 c.1545+41C>T - IntronicSNV - 13/19
19-11206530-T-C LDLR c.68-4369T>C - IntronicSNV - 1/17
16-71997789-A-C PKD1L3 c.2466-539T>G - IntronicSNV - 15/30
5-74929647-G-A ANKDD1B c.601-1076G>A - IntronicSNV - 5/13
16-71997789-A-T PKD1L3 c.2466-539T>A - IntronicSNV - 15/30
19-45676294-G-A TRAPPC6A c.126+5057C>T - IntronicSNV - 1/5
19-19721722-G-A PBX4 c.119+7598C>T - IntronicSNV - 1/7
5-74697050-T-G COL4A3BP c.1018-928A>C - IntronicSNV - 9/17
16-72028930-T-G PKD1L3 c.419-1699A>C - IntronicSNV - 2/30
5-156460095-T-C HAVCR1 c.953-197A>G - IntronicSNV - 6/7
11-61603237-C-T FADS2 c.208-2013C>T - IntronicSNV - 1/11
1-63112320-C-A DOCK7 c.818+1042G>T - IntronicSNV - 7/48
9-136149229-T-C ABO c.28+1349A>G - IntronicSNV - 1/7
19-44934842-G-C ZNF229 c.239-125C>G - IntronicSNV - 5/5
11-126228659-T-G ST3GAL4 c.-61+2462T>G - intron_variant - 1/10
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
12-121446446-T-A C12orf43 c.287+2185A>T - IntronicSNV - 3/5
1-63083289-C-A DOCK7 c.1682+1088G>T - IntronicSNV - 14/48
5-156380067-T-G TIMD4 c.401-1266A>C - IntronicSNV - 2/8
2-44096336-T-A ABCG8 c.965-2779T>A - IntronicSNV - 6/12
11-61604814-C-A FADS2 c.208-436C>A - IntronicSNV - 1/11
19-11216561-A-C LDLR c.694+285A>C - IntronicSNV - 4/17
19-11216561-A-T LDLR c.694+285A>T - IntronicSNV - 4/17
2-20985414-T-C LDAH c.298+4601A>G - IntronicSNV - 3/6
5-156469783-G-A HAVCR1 c.782-90C>T - IntronicSNV - 4/7
1-55045930-C-A ACOT11 c.34-4398C>A - IntronicSNV - 1/16
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
19-45401666-A-G TOMM40 c.644-2321A>G - IntronicSNV - 6/9
19-49206417-A-G FUT2 c.204A>G p.Ala68Ala Synonymous 2/2 -
19-10903972-G-A DNM2 c.993-424G>A - IntronicSNV - 7/19
1-109703023-C-A KIAA1324 c.154-1493C>A - IntronicSNV - 1/21
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
19-11072610-G-T SMARCA4 c.-32+760G>T - intron_variant - 1/34
19-11072610-G-A SMARCA4 c.-32+760G>A - intron_variant - 1/34
19-11241915-A-G LDLR c.2548-42A>G - IntronicSNV - 17/17
19-45447178-C-T APOC4 c.77-828C>T - IntronicSNV - 1/2
20-39916160-T-C ZHX3 c.-245+12446A>G - intron_variant - 1/3
7-44709372-T-C OGDH c.633+2922T>C - IntronicSNV - 5/8
2-21259562-T-C APOB c.693+410A>G - IntronicSNV - 6/28
8-144991176-T-C PLEC c.12894A>G p.Ser4298Ser Synonymous 33/33 -
20-39885529-T-C ZHX3 c.-151+12101A>G - intron_variant - 2/3
1-55638546-T-C USP24 c.559-353A>G - IntronicSNV - 3/67
2-21231592-G-A APOB c.8148C>T p.Ile2716Ile Synonymous 26/29 -
6-161017120-G-T LPA c.3288-553C>A - IntronicSNV - 20/38
16-71996291-T-G PKD1L3 c.2612+813A>C - IntronicSNV - 16/30
16-71996291-T-A PKD1L3 c.2612+813A>T - IntronicSNV - 16/30
2-21250914-G-A APOB c.1853C>T p.Ala618Val Missense 14/29 -
1-55046392-G-A ACOT11 c.34-3936G>A - IntronicSNV - 1/16
2-118583100-G-A DDX18 c.1446G>A p.Thr482Thr Synonymous 10/14 -
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
11-61623140-C-T FADS2 c.745-1343C>T - IntronicSNV - 5/11
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
20-39769975-T-A PLCG1 c.217+3477T>A - IntronicSNV - 1/31
11-61623140-C-A FADS2 c.745-1343C>A - IntronicSNV - 5/11
11-126218541-A-G DCPS c.*3033A>G - IntergenicSNV 6/6 -
8-145000602-T-C PLEC c.4125+350A>G - IntronicSNV - 31/32
5-156376703-A-G TIMD4 c.719T>C p.Val240Ala Missense 4/9 -
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
11-61580635-C-T FADS1 c.486+80G>A - IntronicSNV - 2/11
1-55047724-G-C ACOT11 c.34-2604G>C - IntronicSNV - 1/16
16-72000195-C-G PKD1L3 c.2465+841G>C - IntronicSNV - 15/30
19-11275139-A-C KANK2 c.*2095T>G - 3-UTRSNV 11/11 -
2-44074000-G-A ABCG8 c.322+550G>A - IntronicSNV - 3/12
19-10904689-G-C DNM2 c.1128+158G>C - IntronicSNV - 8/19
1-55518374-C-T PCSK9 c.709C>T p.Arg237Trp Missense 5/12 -
2-44096336-T-C ABCG8 c.965-2779T>C - IntronicSNV - 6/12
1-55048190-G-A ACOT11 c.34-2138G>A - IntronicSNV - 1/16
19-45371168-G-A NECTIN2 c.478+2251G>A - IntronicSNV - 2/5
11-61621040-G-T FADS2 c.745-3443G>T - IntronicSNV - 5/11
11-61621040-G-C FADS2 c.745-3443G>C - IntronicSNV - 5/11
11-61621040-G-A FADS2 c.745-3443G>A - IntronicSNV - 5/11
2-21261507-T-C APOB c.384-524A>G - IntronicSNV - 4/28
2-21261507-T-A APOB c.384-524A>T - IntronicSNV - 4/28
17-45406345-T-G EFCAB13 c.30+596T>G - IntronicSNV - 4/24
17-45406345-T-C EFCAB13 c.30+596T>C - IntronicSNV - 4/24
19-11229218-A-G LDLR c.1845+1544A>G - IntronicSNV - 12/17
1-55525726-T-G PCSK9 c.1681+390T>G - IntronicSNV - 10/11
1-55525726-T-A PCSK9 c.1681+390T>A - IntronicSNV - 10/11
5-74989037-T-C POC5 c.616-712A>G - IntronicSNV - 5/10
1-109727284-C-G KIAA1324 c.953-383C>G - IntronicSNV - 7/21
5-74982207-T-C POC5 c.1055-898A>G - IntronicSNV - 8/10
5-74890618-A-G POLK c.1528+744A>G - IntronicSNV - 12/14
19-11114352-A-G SMARCA4 c.2001+279A>G - IntronicSNV - 13/34
1-55046535-C-G ACOT11 c.34-3793C>G - IntronicSNV - 1/16
8-59332694-G-A UBXN2B c.188+3182G>A - IntronicSNV - 2/7
8-59332694-G-T UBXN2B c.188+3182G>T - IntronicSNV - 2/7
19-45676294-G-C TRAPPC6A c.126+5057C>G - IntronicSNV - 1/5
1-55046535-C-T ACOT11 c.34-3793C>T - IntronicSNV - 1/16