PMID: 28577571

Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids in health and disease
CS Paththinige, ND Sirisena, V Dissanayake
2017-06-02

267 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11163562-C-T SMARCA4 c.4425-5369C>T - IntronicSNV - 30/34
6-16145325-A-G MYLIP c.1025A>G p.Asn342Ser Missense 6/7 -
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 -
6-33158898-C-T COL11A2 c.82+1038G>A - IntronicSNV - 1/4
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
1-109817838-T-C CELSR2 c.*1167T>C - 3-UTRSNV 34/34 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
3-58381287-G-A PXK c.721-98G>A - IntronicSNV - 8/17
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
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 -
7-87082292-G-A ABCB4 c.504C>T p.Asn168Asn Synonymous 6/28 -
9-78765001-C-T PCSK5 c.1313-6960C>T - IntronicSNV - 10/36
11-61557803-T-C TMEM258 c.113+162A>G - IntronicSNV - 2/3
7-87032613-A-C ABCB4 c.3487-16T>G - IntronicSNV - 26/27
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
6-35395795-G-A PPARD c.*1939G>A - 3-UTRSNV 8/8 -
6-35395795-G-C PPARD c.*1939G>C - 3-UTRSNV 8/8 -
15-58724792-T-A LIPC c.88+473T>A - IntronicSNV - 1/8
3-11400249-C-A ATG7 c.1479+163C>A - IntronicSNV - 13/18
3-11400249-C-T ATG7 c.1479+163C>T - IntronicSNV - 13/18
8-116648565-A-C TRPS1 c.1-12701T>G - IntronicSNV - 1/6
9-104362937-A-G GRIN3A c.2766+12721T>C - IntronicSNV - 6/8
1-230237103-A-G GALNT2 c.126+33950A>G - IntronicSNV - 1/15
2-136557319-C-T LCT c.4866+858G>A - IntronicSNV - 12/16
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
11-118486067-T-C PHLDB1 c.184+670T>C - IntronicSNV - 4/23
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
20-44538427-T-C PLTP c.330-117A>G - IntronicSNV - 4/15
19-49206417-A-G FUT2 c.204A>G p.Ala68Ala Synonymous 2/2 -
17-31983895-A-G ASIC2 c.555+499102T>C - IntronicSNV - 1/9
1-230294715-C-A GALNT2 c.127-19249C>A - IntronicSNV - 1/15
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 -
16-67708897-A-G GFOD2 c.*161T>C - 3-UTRSNV 3/3 -
2-21225485-C-T APOB c.12809G>A p.Arg4270Lys Missense 29/29 -
16-57000938-G-A CETP c.234-2360G>A - IntronicSNV - 2/15
8-19820405-G-A LPL c.1427+675G>A - IntronicSNV - 9/9
19-11241915-A-G LDLR c.2548-42A>G - IntronicSNV - 17/17
9-2640759-A-G VLDLR c.326-618A>G - IntronicSNV - 3/18
10-91002927-C-T LIPA c.229+2506G>A - IntronicSNV - 3/9
7-87032613-A-T ABCB4 c.3487-16T>A - IntronicSNV - 26/27
17-64208285-C-G APOH c.1004G>C p.Trp335Ser Missense 8/8 -
7-94946084-A-C PON1 c.163T>G p.Leu55Val Missense 3/9 -
19-52324216-G-C FPR3 c.1-2786G>C - IntronicSNV - 1/1
19-52324216-G-A FPR3 c.1-2786G>A - IntronicSNV - 1/1
19-45403412-C-T TOMM40 c.644-575C>T - IntronicSNV - 6/9
2-21225753-C-A APOB c.12541G>T p.Glu4181* Nonsense 29/29 -
12-110016559-G-A MVK c.227-1048G>A - IntronicSNV - 3/10
2-21225485-C-G APOB c.12809G>C p.Arg4270Thr Missense 29/29 -
6-35395795-G-T PPARD c.*1939G>T - 3-UTRSNV 8/8 -
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
9-107555711-C-A ABCA1 c.5507-130G>T - IntronicSNV - 40/49
9-107555711-C-G ABCA1 c.5507-130G>C - IntronicSNV - 40/49
9-107555711-C-T ABCA1 c.5507-130G>A - IntronicSNV - 40/49
4-3473139-A-G DOK7 c.101-1994A>G - IntronicSNV - 2/6
11-61597972-A-G FADS2 c.207+1903A>G - IntronicSNV - 1/11
9-78795213-C-G PCSK5 c.2003+599C>G - IntronicSNV - 15/36
19-8429323-G-A ANGPTL4 c.118G>A p.Glu40Lys Missense 1/7 -
22-46627603-C-T PPARA c.712-86C>T - IntronicSNV - 6/7
12-53509933-C-T SOAT2 c.761C>T p.Thr254Ile Missense 7/15 -
16-53809247-G-A FTO c.46-34805G>A - IntronicSNV - 1/8
19-11238473-A-T LDLR c.2312-211A>T - IntronicSNV - 15/17
19-11238473-A-C LDLR c.2312-211A>C - IntronicSNV - 15/17
19-11238473-A-G LDLR c.2312-211A>G - IntronicSNV - 15/17
2-21224853-C-T APOB c.13441G>A p.Ala4481Thr Missense 29/29 -
2-21224853-C-G APOB c.13441G>C p.Ala4481Pro Missense 29/29 -
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
16-57009029-G-C CETP c.947G>C p.Trp316Ser Missense 10/16 -
11-47270255-C-T ACP2 c.86G>A p.Arg29Gln Missense 1/11 -
2-27743154-A-G GCKR c.1572+1350A>G - IntronicSNV - 17/18
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
19-11350488-C-T ANGPTL8 c.175C>T p.Arg59Trp Missense 1/4 -
20-4891759-A-G SLC23A2 c.207+1767T>C - IntronicSNV - 4/16
1-230294715-C-T GALNT2 c.127-19249C>T - IntronicSNV - 1/15
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
11-61580635-C-T FADS1 c.486+80G>A - IntronicSNV - 2/11
2-203532304-A-G FAM117B c.602-28300A>G - IntronicSNV - 1/7
20-44540692-C-A PLTP c.-12+26G>T - intron_variant - 1/15
13-32953388-T-C BRCA2 c.8755-66T>C - IntronicSNV - 21/26
1-230235032-G-T GALNT2 c.126+31879G>T - IntronicSNV - 1/15
1-230235032-G-A GALNT2 c.126+31879G>A - IntronicSNV - 1/15
20-4927713-C-T SLC23A2 c.1-14505G>A - IntronicSNV - 2/16
11-61552680-G-T MYRF c.3181-592G>T - IntronicSNV - 24/25
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
20-44540692-C-G PLTP c.-12+26G>C - intron_variant - 1/15
22-46614274-C-G PPARA c.484C>G p.Leu162Val Missense 5/8 -
1-23766233-C-T ASAP3 c.945-510G>A - IntronicSNV - 10/24
1-179323738-C-A SOAT1 c.*962C>A - 3-UTRSNV 16/16 -
12-123796238-C-T SBNO1 c.3218-562G>A - IntronicSNV - 24/31
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
11-116884789-G-A SIK3 c.274-57009C>T - intron_variant - 1/23
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
17-64210580-A-G APOH c.973T>C p.Cys325Arg Missense 7/8 -
1-55597067-A-G USP24 c.3537+1151T>C - IntronicSNV - 31/67
1-156700651-T-G RRNAD1 c.112-1132T>G - IntronicSNV - 1/7
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
10-1641948-C-T ADARB2 c.100+137297G>A - IntronicSNV - 1/9
3-12628920-G-C RAF1 c.1417+170C>G - IntronicSNV - 13/16
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
15-58726744-G-C LIPC c.88+2425G>C - IntronicSNV - 1/8
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
7-44552209-T-C NPC1L1 c.*837A>G - 3-UTRSNV 20/20 -
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
4-89741269-G-C FAM13A c.29+2858C>G - IntronicSNV - 1/17
4-89741269-G-A FAM13A c.29+2858C>T - IntronicSNV - 1/17
X-66942625-G-A AR c.2450-44G>A - IntronicSNV - 6/7
1-109814880-C-T CELSR2 c.7927-20C>T - IntronicSNV - 28/33
12-9082581-A-G PHC1 c.613-450A>G - IntronicSNV - 6/14
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
3-132163200-G-T DNAJC13 c.69-2119G>T - IntronicSNV - 2/55
17-64210580-A-C APOH c.973T>G p.Cys325Gly Missense 7/8 -
6-116312893-A-T FRK c.466+12147T>A - IntronicSNV - 2/7
20-2520107-A-G TMC2 c.82+2145A>G - IntronicSNV - 2/19
20-2520107-A-C TMC2 c.82+2145A>C - IntronicSNV - 2/19
2-63149557-G-A EHBP1 c.1291-20296G>A - IntronicSNV - 11/24
2-136381348-G-A R3HDM1 c.497+1046G>A - IntronicSNV - 7/25
5-74636484-C-A HMGCR c.1-1947C>A - IntronicSNV - 1/19
16-53809247-G-C FTO c.46-34805G>C - IntronicSNV - 1/8
6-32412435-G-A HLA-DRA c.*18G>A - 3_prime_UTR_variant 5/5 -
5-35953320-C-T UGT3A1 c.*984G>A - 3-UTRSNV 7/7 -
19-45477381-G-A CLPTM1 c.310-315G>A - IntronicSNV - 3/13
2-118849850-A-G INSIG2 c.-139+3733A>G - intron_variant - 1/5
1-230304988-A-G GALNT2 c.127-8976A>G - IntronicSNV - 1/15
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
1-179272116-T-A SOAT1 c.118+179T>A - IntronicSNV - 2/15
3-12421238-C-G PPARG c.34C>G p.Pro12Ala Missense 2/7 -
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
22-17072483-A-G CCT8L2 c.958T>C p.Trp320Arg Missense 1/1 -
19-33899065-G-A PEPD c.818+3513C>T - IntronicSNV - 11/14
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
12-125328779-G-A SCARB1 c.126+19362C>T - IntronicSNV - 1/12
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
10-46013277-A-C MARCH8 c.102+15281T>G - IntronicSNV - 2/6
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
1-179269444-T-C SOAT1 c.1-2376T>C - IntronicSNV - 1/15
2-21225753-C-T APOB c.12541G>A p.Glu4181Lys Missense 29/29 -
1-93009438-C-A EVI5 c.2118+19761G>T - IntronicSNV - 17/17
6-89889461-G-C GABRR1 c.1095+550C>G - IntronicSNV - 8/8
6-89889461-G-A GABRR1 c.1095+550C>T - IntronicSNV - 8/8
9-15296034-C-A TTC39B c.240+11048G>T - IntronicSNV - 1/19
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
7-87032613-A-G ABCB4 c.3487-16T>C - IntronicSNV - 26/27
3-118948171-A-G B4GALT4 c.253+523T>C - IntronicSNV - 3/7
2-135907088-A-G RAB3GAP1 c.1924-851A>G - IntronicSNV - 17/23
2-169830155-G-A ABCB11 c.1434+70C>T - IntronicSNV - 13/27
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
16-56919348-C-G SLC12A3 c.1925+72C>G - IntronicSNV - 15/25
16-56919348-C-A SLC12A3 c.1925+72C>A - IntronicSNV - 15/25
6-31625541-C-A APOM c.541+41C>A - IntronicSNV - 5/5
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
10-46013277-A-T MARCH8 c.102+15281T>A - IntronicSNV - 2/6
2-170129547-C-T LRP2 c.2006G>A p.Gly669Asp Missense 15/79 -
1-179315898-C-A SOAT1 c.1118-837C>A - IntronicSNV - 11/15
3-12353198-C-G PPARG c.-3+23679C>G - intron_variant - 1/6
2-44074431-C-A ABCG8 c.322+981C>A - IntronicSNV - 3/12
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
16-81534790-T-A CMIP c.18+5691T>A - IntronicSNV - 1/20
17-45425115-G-T EFCAB13 c.518-59G>T - IntronicSNV - 8/24
17-45425115-G-A EFCAB13 c.518-59G>A - IntronicSNV - 8/24
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
7-94946084-A-G PON1 c.163T>C p.Leu55Leu Synonymous 3/9 -
7-94946084-A-T PON1 c.163T>A p.Leu55Met Missense 3/9 -
9-2636992-T-C VLDLR c.202+1420T>C - IntronicSNV - 2/18
2-10030024-C-T TAF1B c.807+7090C>T - IntronicSNV - 8/14
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
11-65391317-G-A PCNX3 c.2512-83G>A - IntronicSNV - 12/34
1-179323738-C-G SOAT1 c.*962C>G - 3-UTRSNV 16/16 -
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
2-211540489-C-A CPS1 c.4217C>A p.Ala1406Asp Missense 37/39 -
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 -
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
2-44074431-C-T ABCG8 c.322+981C>T - IntronicSNV - 3/12
3-32533010-C-T CMTM6 c.315+192G>A - IntronicSNV - 2/3
1-216936881-A-G ESRRG c.1-86061T>C - IntronicSNV - 2/7
1-216936881-A-C ESRRG c.1-86061T>G - IntronicSNV - 2/7
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
22-30378703-C-T MTMR3 c.210+3662C>T - IntronicSNV - 5/19
3-50129399-C-T RBM5 c.18-77C>T - IntronicSNV - 2/24
2-136614255-G-A MCM6 c.1626+43C>T - IntronicSNV - 11/16
8-19819328-T-C LPL c.1323-298T>C - IntronicSNV - 8/9
8-19809322-G-C LPL c.292G>C p.Ala98Pro Missense 3/10 -
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 -
3-52532118-A-T STAB1 c.78+2611A>T - IntronicSNV - 1/68
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
14-76618827-G-T GPATCH2L c.-11+493G>T - intron_variant - 1/9
11-47286290-T-C NR1H3 c.808+2721T>C - IntronicSNV - 6/8
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
20-44534651-G-A PLTP c.705+256C>T - IntronicSNV - 8/15
3-47061183-G-A SETD2 c.7431+67C>T - IntronicSNV - 19/20
3-47061183-G-C SETD2 c.7431+67C>G - IntronicSNV - 19/20
1-220973563-C-T MARC1 c.753+2207C>T - IntronicSNV - 4/6
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
21-43710909-C-G ABCG1 c.1427-293C>G - IntronicSNV - 11/14
1-63061906-C-T DOCK7 c.1683-9611G>A - IntronicSNV - 14/48
1-230283764-G-A GALNT2 c.127-30200G>A - IntronicSNV - 1/15
17-76403984-G-A PGS1 c.1402+3814G>A - IntronicSNV - 7/9
7-17919258-G-T SNX13 c.441-3845C>A - IntronicSNV - 5/25
7-17919258-G-A SNX13 c.441-3845C>T - IntronicSNV - 5/25
1-230326412-G-A GALNT2 c.220+12355G>A - IntronicSNV - 2/15
7-6449272-A-G DAGLB c.*196T>C - 3-UTRSNV 15/15 -
11-61597212-C-T FADS2 c.207+1143C>T - IntronicSNV - 1/11
12-124460167-G-T ZNF664 c.-757+1600G>T - intron_variant - 2/4
15-101867487-C-G PCSK6 c.2075-803G>C - intron_variant - 16/22
15-101867487-C-T PCSK6 c.2075-803G>A - intron_variant - 16/22
7-1083777-A-G C7orf50 c.130-33998T>C - IntronicSNV - 2/4
19-45412053-CTCC-C APOE c.500_502delTCC p.Leu167delLeu InFrameDeletion 4/4 -
3-52532118-A-G STAB1 c.78+2611A>G - IntronicSNV - 1/68
1-207875175-G-T CR1L c.1328+212G>T - IntronicSNV - 9/11
1-230304988-A-C GALNT2 c.127-8976A>C - IntronicSNV - 1/15
11-18632984-T-C SPTY2D1 c.1964+40A>G - IntronicSNV - 5/5
1-207875175-G-C CR1L c.1328+212G>C - IntronicSNV - 9/11
18-47362408-A-C MYO5B c.5314-614T>G - IntronicSNV - 38/39
1-109817590-G-T CELSR2 c.*919G>T - 3-UTRSNV 34/34 -
5-53298025-G-A ARL15 c.462+111007C>T - IntronicSNV - 4/4
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
2-135837906-C-A RAB3GAP1 c.151-10662C>A - IntronicSNV - 3/23
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
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 -
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
1-21946396-T-C RAP1GAP c.18+112A>G - IntronicSNV - 4/24
16-81534790-T-C CMIP c.18+5691T>C - IntronicSNV - 1/20
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
10-91005854-C-T LIPA c.112-304G>A - IntronicSNV - 2/9
9-107665739-G-A ABCA1 c.66+156C>T - IntronicSNV - 2/49
12-125284748-A-G SCARB1 c.1050T>C p.Ala350Ala Synonymous 8/13 -
16-57002732-T-G CETP c.234-566T>G - IntronicSNV - 2/15
7-44553238-A-G NPC1L1 c.3888T>C p.Val1296Val Synonymous 20/20 -
2-122148174-A-G CLASP1 c.3124-2692T>C - IntronicSNV - 30/39
12-125284748-A-T SCARB1 c.1050T>A p.Ala350Ala Synonymous 8/13 -
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -
19-45395266-G-A TOMM40 c.274+320G>A - IntronicSNV - 2/9
4-68472059-A-G STAP1 c.872A>G p.Asn291Ser Missense 9/9 -
22-35711098-A-G TOM1 c.53-2772A>G - IntronicSNV - 1/14
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
7-44580876-G-T NPC1L1 c.1-18C>A - 5-UTRSNV 1/20 -
7-44580876-G-A NPC1L1 c.1-18C>T - 5-UTRSNV 1/20 -
9-78576644-G-A PCSK5 c.298-24404G>A - IntronicSNV - 2/36
8-116599199-T-G TRPS1 c.2700+29A>C - IntronicSNV - 5/6
2-27722416-G-A GCKR c.549+99G>A - IntronicSNV - 7/18
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
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
1-63049551-A-G DOCK7 c.1801-626T>C - IntronicSNV - 15/48
1-63049551-A-C DOCK7 c.1801-626T>G - IntronicSNV - 15/48
2-234679384-C-T UGT1A1 c.1305-1524C>T - IntronicSNV - 4/4