PMID: 22629316

Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

PloS one
K Musunuru, SP Romaine, G Lettre, JG Wilson, KA Volcik, MY Tsai, HA Taylor, PJ Schreiner, JI Rotter, SS Rich, S Redline, BM Psaty, GJ Papanicolaou, JM Ordovas, K Liu, RM Krauss, NL Glazer, SB Gabriel, M Fornage, LA Cupples, SG Buxbaum, E Boerwinkle, CM Ballantyne, S Kathiresan, DJ Rader
2012

76 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
8-19820433-T-C LPL c.1427+703T>C - IntronicSNV - 9/9
19-45410444-G-A APOE c.43+520G>A - IntronicSNV - 2/3
4-177608707-C-T VEGFC c.812-33G>A - IntronicSNV - 5/6
19-45451662-G-A APOC2 c.1-74G>A - IntronicSNV - 1/3
4-658304-G-T PDE6B c.2129+294G>T - IntronicSNV - 17/21
8-19824492-T-C LPL c.*1671T>C - 3-UTRSNV 10/10 -
8-19824492-T-A LPL c.*1671T>A - 3-UTRSNV 10/10 -
9-107594364-A-G ABCA1 c.1510-256T>C - IntronicSNV - 12/49
11-116623659-C-T BUD13 c.1766+4203G>A - IntronicSNV - 9/9
7-73026378-C-A MLXIPL c.400+4023G>T - IntronicSNV - 2/16
1-237557130-T-C RYR2 c.773+5647T>C - IntronicSNV - 10/104
1-169530586-T-C F5 c.374-582A>G - IntronicSNV - 3/24
1-169533266-G-T F5 c.374-3262C>A - IntronicSNV - 3/24
7-73026378-C-T MLXIPL c.400+4023G>A - IntronicSNV - 2/16
8-19819536-T-G LPL c.1323-90T>G - IntronicSNV - 8/9
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -
11-116653296-C-T ZPR1 c.1093-336G>A - IntronicSNV - 11/13
11-116653296-C-G ZPR1 c.1093-336G>C - IntronicSNV - 11/13
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
15-60855555-C-T RORA c.197-31505G>A - IntronicSNV - 2/10
19-11202460-T-A LDLR c.67+2169T>A - IntronicSNV - 1/17
16-57821875-T-C KIFC3 c.315+7036A>G - IntronicSNV - 3/18
1-169527945-C-T F5 c.730+446G>A - IntronicSNV - 5/24
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
X-153660041-C-T ATP6AP1 c.289-135C>T - IntronicSNV - 2/9
7-80300449-T-G CD36 c.975T>G p.Tyr325* Nonsense 10/14 -
9-107604197-G-T ABCA1 c.814-1397C>A - IntronicSNV - 8/49
10-83796920-A-G NRG3 c.823+161001A>G - IntronicSNV - 1/8
1-55518160-C-G PCSK9 c.657+76C>G - IntronicSNV - 4/11
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
1-230300586-C-G GALNT2 c.127-13378C>G - IntronicSNV - 1/15
1-230300586-C-T GALNT2 c.127-13378C>T - IntronicSNV - 1/15
1-169533266-G-A F5 c.374-3262C>T - IntronicSNV - 3/24
19-45401666-A-G TOMM40 c.644-2321A>G - IntronicSNV - 6/9
10-95327429-C-T FFAR4 c.567+385C>T - IntronicSNV - 1/3
5-139403517-A-G NRG2 c.700+18438T>C - IntronicSNV - 1/10
12-2710223-T-C CACNA1C c.2854-797T>C - IntronicSNV - 21/46
16-57006590-C-T CETP c.750+595C>T - IntronicSNV - 8/15
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
16-57006590-C-G CETP c.750+595C>G - IntronicSNV - 8/15
1-109817192-A-G CELSR2 c.*521A>G - 3-UTRSNV 34/34 -
16-57007353-C-T CETP c.861C>T p.Phe287Phe Synonymous 9/16 -
1-63056112-G-A DOCK7 c.1683-3817C>T - IntronicSNV - 14/48
1-55518160-C-A PCSK9 c.657+76C>A - IntronicSNV - 4/11
1-55519174-G-A PCSK9 c.799+710G>A - IntronicSNV - 5/11
11-116662331-G-T APOA5 c.132C>A p.Ile44Ile Synonymous 3/4 -
15-51539333-C-T CYP19A1 c.1-4224G>A - IntronicSNV - 1/9
1-55519174-G-C PCSK9 c.799+710G>C - IntronicSNV - 5/11
1-169528075-C-T F5 c.730+316G>A - IntronicSNV - 5/24
1-169528075-C-G F5 c.730+316G>C - IntronicSNV - 5/24
1-169528075-C-A F5 c.730+316G>T - IntronicSNV - 5/24
5-149218886-C-T PPARGC1B c.2619-718C>T - IntronicSNV - 8/11
2-44074000-G-A ABCG8 c.322+550G>A - IntronicSNV - 3/12
16-67976851-C-T LCAT c.340G>A p.Val114Met Missense 3/6 -
16-57007446-T-A CETP c.930+24T>A - IntronicSNV - 9/15
16-57007446-T-G CETP c.930+24T>G - IntronicSNV - 9/15
16-67976851-C-A LCAT c.340G>T p.Val114Leu Missense 3/6 -
16-67976851-C-G LCAT c.340G>C p.Val114Leu Missense 3/6 -
1-237557130-T-G RYR2 c.773+5647T>G - IntronicSNV - 10/104
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
19-45447221-G-A APOC4 c.77-785G>A - IntronicSNV - 1/2
19-19610596-C-G GATAD2A c.1204+1065C>G - IntronicSNV - 8/11
7-86439740-T-A GRM3 c.1324+23308T>A - IntronicSNV - 3/5
19-8431581-G-A ANGPTL4 c.547+378G>A - IntronicSNV - 3/6
19-8431581-G-C ANGPTL4 c.547+378G>C - IntronicSNV - 3/6
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
19-10388462-G-A ICAM1 c.331+2758G>A - IntronicSNV - 2/6
19-19610596-C-T GATAD2A c.1204+1065C>T - IntronicSNV - 8/11
2-21229160-C-A APOB c.10580G>T p.Arg3527Leu Missense 26/29 -
5-139403517-A-C NRG2 c.700+18438T>G - IntronicSNV - 1/10
20-43058962-G-A HNF4A c.*657G>A - 3-UTRSNV 10/10 -
1-113040277-A-G WNT2B c.125+6574A>G - IntronicSNV - 2/5
5-149218886-C-A PPARGC1B c.2619-718C>A - IntronicSNV - 8/11
20-43058962-G-T HNF4A c.*657G>T - 3-UTRSNV 10/10 -
21-27367821-C-G APP c.1090+1854G>C - IntronicSNV - 8/17
1-101186379-A-T VCAM1 c.340+72A>T - IntronicSNV - 2/8