PMID: 30694319

Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants With Risk of Coronary Heart Disease.

JAMA
BA Ference, JJP Kastelein, KK Ray, HN Ginsberg, MJ Chapman, CJ Packard, U Laufs, C Oliver-Williams, AM Wood, AS Butterworth, E Di Angelantonio, J Danesh, SJ Nicholls, DL Bhatt, MS Sabatine, AL Catapano
2019-01-29

169 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
2-44074431-C-T ABCG8 c.322+981C>T - IntronicSNV - 3/12
12-125307053-G-A SCARB1 c.127-4800C>T - IntronicSNV - 1/12
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
12-57809456-C-T R3HDM2 c.-106+15047G>A - intron_variant - 1/23
3-52532118-A-T STAB1 c.78+2611A>T - IntronicSNV - 1/68
6-160543148-C-T SLC22A1 c.181C>T p.Arg61Cys Missense 1/11 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
1-221057646-C-G HLX c.1067C>G p.Pro356Arg Missense 4/4 -
4-69343287-A-G TMPRSS11E c.908A>G p.Tyr303Cys Missense 8/10 -
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
20-17596155-C-G RRBP1 c.2672G>C p.Arg891Pro Missense 24/26 -
1-55523103-G-A PCSK9 c.1096G>A p.Glu366Lys Missense 7/12 -
22-41170063-T-C SLC25A17 c.694-40A>G - IntronicSNV - 7/8
1-221057646-C-T HLX c.1067C>T p.Pro356Leu Missense 4/4 -
4-103188709-C-T SLC39A8 c.1171G>A p.Ala391Thr Missense 7/8 -
22-46627780-C-T PPARA c.803C>T p.Ala268Val Missense 7/8 -
19-7184762-A-G INSR c.653-114T>C - IntronicSNV - 2/21
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
1-55505544-C-G PCSK9 c.34C>G p.Pro12Ala Missense 1/12 -
19-45410002-G-A APOE c.43+78G>A - IntronicSNV - 2/3
4-103188709-C-A SLC39A8 c.1171G>T p.Ala391Ser Missense 7/8 -
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
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
9-19376255-A-T RPS6 c.*36T>A - 3-UTRSNV 6/6 -
5-74643072-G-T HMGCR c.494G>T p.Gly165Val Missense 6/20 -
14-94844947-C-T SERPINA1 c.1096G>A p.Glu366Lys Missense 5/5 -
14-94844947-C-G SERPINA1 c.1096G>C p.Glu366Gln Missense 5/5 -
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
16-81534790-T-C CMIP c.18+5691T>C - IntronicSNV - 1/20
8-19819439-A-G LPL c.1323-187A>G - IntronicSNV - 8/9
8-133895236-C-T TG c.1067C>T p.Pro356Leu Missense 8/48 -
20-62695931-G-A TCEA2 c.1-1907G>A - IntronicSNV - 2/10
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -
1-235973466-C-A LYST c.652G>T p.Ala218Ser Missense 5/53 -
11-61569830-C-T FADS1 c.*53G>A - 3-UTRSNV 12/12 -
11-64031241-C-T PLCB3 c.2534C>T p.Ser845Leu Missense 21/31 -
19-45395266-G-A TOMM40 c.274+320G>A - IntronicSNV - 2/9
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 -
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
12-107174646-A-C RIC8B c.85-3129A>C - IntronicSNV - 1/8
8-145058986-A-G PARP10 c.1184T>C p.Leu395Pro Missense 5/11 -
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
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 -
5-74643099-T-C HMGCR c.521T>C p.Val174Ala Missense 6/20 -
19-11221337-A-C LDLR c.950A>C p.Glu317Ala Missense 7/18 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
19-11213358-C-G LDLR c.209C>G p.Ser70Cys Missense 3/18 -
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
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 -
3-12393125-C-G PPARG c.1-28080C>G - IntronicSNV - 1/6
11-116896155-A-C SIK3 c.274-68375T>G - intron_variant - 1/23
17-76395430-C-T PGS1 c.513C>T p.Gly171Gly Synonymous 5/10 -
11-66297363-C-A BBS1 c.1413C>A p.Leu471Leu Synonymous 14/17 -
1-235973671-A-C LYST c.447T>G p.Ile149Met Missense 5/53 -
11-126160826-C-T TIRAP c.37C>T p.Arg13Trp Missense 4/5 -
5-131008194-T-C FNIP1 c.1943A>G p.Gln648Arg Missense 14/18 -
5-131008194-T-A FNIP1 c.1943A>T p.Gln648Leu Missense 14/18 -
17-73782191-T-C UNK c.104+1126T>C - IntronicSNV - 1/15
22-41170063-T-A SLC25A17 c.694-40A>T - IntronicSNV - 7/8
1-55505628-G-A PCSK9 c.118G>A p.Glu40Lys Missense 1/12 -
8-116648565-A-C TRPS1 c.1-12701T>G - IntronicSNV - 1/6
17-45732774-C-A KPNB1 c.283-1452C>A - IntronicSNV - 3/21
8-11702375-G-A CTSB c.*259C>T - 3-UTRSNV 12/12 -
12-124427306-T-A CCDC92 c.208A>T p.Ser70Cys Missense 4/5 -
6-127452935-C-T RSPO3 c.97+12501C>T - IntronicSNV - 1/4
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 -
2-21238367-C-T APOB c.3383G>A p.Arg1128His Missense 22/29 -
2-21225485-C-T APOB c.12809G>A p.Arg4270Lys Missense 29/29 -
11-66297363-C-T BBS1 c.1413C>T p.Leu471Leu Synonymous 14/17 -
2-44028013-A-T DYNC2LI1 c.688A>T p.Ile230Leu Missense 9/13 -
9-2640759-A-G VLDLR c.326-618A>G - IntronicSNV - 3/18
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
8-133895229-G-C TG c.1060G>C p.Glu354Gln Missense 8/48 -
11-18645843-C-G SPTY2D1 c.61-7307G>C - IntronicSNV - 1/5
11-18645843-C-A SPTY2D1 c.61-7307G>T - IntronicSNV - 1/5
20-17596155-C-T RRBP1 c.2672G>A p.Arg891Gln Missense 24/26 -
2-21252534-G-A APOB c.1594C>T p.Arg532Trp Missense 12/29 -
19-46181392-G-C GIPR c.1060G>C p.Glu354Gln Missense 12/14 -
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
4-3473139-A-G DOK7 c.101-1994A>G - IntronicSNV - 2/6
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
19-8429323-G-A ANGPTL4 c.118G>A p.Glu40Lys Missense 1/7 -
14-95057087-C-A SERPINA5 c.892C>A p.Gln298Lys Missense 5/6 -
2-21225485-C-G APOB c.12809G>C p.Arg4270Thr Missense 29/29 -
11-116639104-A-G BUD13 c.237+1741T>C - IntronicSNV - 2/9
11-116639104-A-T BUD13 c.237+1741T>A - IntronicSNV - 2/9
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
11-47270255-C-T ACP2 c.86G>A p.Arg29Gln Missense 1/11 -
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
10-124610027-G-A FAM24B c.5C>T p.Pro2Leu Missense 3/4 -
19-11275139-A-C KANK2 c.*2095T>G - 3-UTRSNV 11/11 -
13-32953388-T-C BRCA2 c.8755-66T>C - IntronicSNV - 21/26
8-19816934-T-C LPL c.1139+43T>C - IntronicSNV - 7/9
19-11221360-T-G LDLR c.973T>G p.Cys325Gly Missense 7/18 -
8-19805708-G-C LPL c.106G>C p.Asp36His Missense 2/10 -
8-19805708-G-A LPL c.106G>A p.Asp36Asn Missense 2/10 -
9-139368953-G-T SEC16A c.3115C>A p.Arg1039Ser Missense 3/32 -
19-11210916-AG-CA LDLR c.85_86delAGinsCA p.Arg29Gln Missense 2/18 -
5-53300662-A-G ARL15 c.462+108370T>C - IntronicSNV - 4/4
2-202122995-A-G CASP8 c.1-8215A>G - IntronicSNV - 2/9
4-100504664-T-C MTTP c.383T>C p.Ile128Thr Missense 4/19 -
9-139368953-G-A SEC16A c.3115C>T p.Arg1039Cys Missense 3/32 -
1-23766233-C-T ASAP3 c.945-510G>A - IntronicSNV - 10/24
17-17409560-C-T PEMT c.523G>A p.Val175Met Missense 6/7 -
2-219555262-G-A STK36 c.1748G>A p.Arg583Gln Missense 14/27 -
10-113940329-T-G GPAM c.127A>C p.Ile43Leu Missense 4/22 -
10-113940329-T-C GPAM c.127A>G p.Ile43Val Missense 4/22 -
2-219555262-G-T STK36 c.1748G>T p.Arg583Leu Missense 14/27 -
16-15129970-A-G PDXDC1 c.2205A>G p.Leu735Leu Synonymous 23/23 -
19-45316588-G-T BCAM c.586G>T p.Val196Leu Missense 5/15 -
4-100045616-C-T ADH4 c.1120G>A p.Val374Ile Missense 9/9 -
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 -
9-19376255-A-C RPS6 c.*36T>G - 3-UTRSNV 6/6 -
3-12628920-G-C RAF1 c.1417+170C>G - IntronicSNV - 13/16
19-11224104-T-C LDLR c.1337T>C p.Leu446Pro Missense 9/18 -
7-73012042-G-A MLXIPL c.1073C>T p.Ala358Val Missense 9/17 -
17-64210580-A-G APOH c.973T>C p.Cys325Arg Missense 7/8 -
17-64210580-A-C APOH c.973T>G p.Cys325Gly Missense 7/8 -
6-31379109-G-A MICA c.586G>A p.Glu196Lys Missense 3/6 -
19-50000009-G-A RPS11 c.15+281G>A - IntronicSNV - 1/4
2-21233972-T-C APOB c.5768A>G p.His1923Arg Missense 26/29 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
22-45996298-A-G FBLN1 c.2084A>G p.His695Arg Missense 17/17 -
1-230304988-A-G GALNT2 c.127-8976A>G - IntronicSNV - 1/15
6-32052444-C-T TNXB c.3191G>A p.Arg1064His Missense 8/44 -
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
1-183094547-T-C LAMC1 c.2663T>C p.Leu888Pro Missense 15/28 -
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 -
1-63118196-A-C DOCK7 c.389+1200T>G - 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
19-7224431-G-A INSR c.653-39783C>T - IntronicSNV - 2/21
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
8-19819724-C-G LPL c.1421C>G p.Ser474* Nonsense 9/10 -
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
2-21229160-C-A APOB c.10580G>T p.Arg3527Leu Missense 26/29 -
6-32813279-C-A TAP1 c.*77G>T - 3-UTRSNV 11/11 -
2-234668570-C-T UGT1A4 c.868-7110C>T - IntronicSNV - 1/4
11-116701354-G-A APOC3 c.55+1G>A - IntronicSNV - 2/3
11-116701353-C-G APOC3 c.55C>G p.Arg19Gly Missense 2/4 -
2-169830155-G-A ABCB11 c.1434+70C>T - IntronicSNV - 13/27
20-17596155-C-A RRBP1 c.2672G>T p.Arg891Leu Missense 24/26 -
11-116701353-C-T APOC3 c.55C>T p.Arg19* Nonsense 2/4 -
1-172346548-G-A DNM3 c.1894-1610G>A - IntronicSNV - 17/20
14-95054285-G-A SERPINA5 c.586G>A p.Val196Ile Missense 3/6 -
2-44074431-C-A ABCG8 c.322+981C>A - IntronicSNV - 3/12
5-74638557-A-G HMGCR c.127A>G p.Ile43Val Missense 2/20 -
11-65391317-G-A PCNX3 c.2512-83G>A - IntronicSNV - 12/34
15-40751555-C-A BAHD1 c.892C>A p.Gln298Lys Missense 2/7 -
16-81534790-T-A CMIP c.18+5691T>A - IntronicSNV - 1/20
19-11163601-G-T SMARCA4 c.4425-5330G>T - IntronicSNV - 30/34
17-29629326-A-G NF1 c.4773-23512A>G - IntronicSNV - 35/56
22-38569006-A-G PLA2G6 c.1-3573T>C - IntronicSNV - 1/15
17-26694861-G-A VTN c.1199C>T p.Thr400Met Missense 7/8 -
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
3-32533010-C-T CMTM6 c.315+192G>A - IntronicSNV - 2/3
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -