PMID: 22629316

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

PloS one

Musunuru, Kiran K, Romaine, Simon P R SP, Lettre, Guillaume G, Wilson, James G JG, Volcik, Kelly A KA, Tsai, Michael Y MY, Taylor, Herman A HA, Schreiner, Pamela J PJ, Rotter, Jerome I JI, Rich, Stephen S SS, Redline, Susan S, Psaty, Bruce M BM, Papanicolaou, George J GJ, Ordovas, Jose M JM, Liu, Kiang K, Krauss, Ronald M RM, Glazer, Nicole L NL, Gabriel, Stacey B SB, Fornage, Myriam M, Cupples, L Adrienne LA, Buxbaum, Sarah G SG, Boerwinkle, Eric E, Ballantyne, Christie M CM, Kathiresan, Sekar S, Rader, Daniel J DJ

2012

39 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
19-45410444-G-A	APOE	c.43+520G>A	-	IntronicSNV	-	2/3
8-19820433-T-C	LPL	c.1427+703T>C	-	IntronicSNV	-	9/9
19-45401666-A-G	TOMM40	c.644-2321A>G	-	IntronicSNV	-	5/8
19-45420343-G-A	APOC1	c.194+761G>A	-	IntronicSNV	-	3/3
2-21237544-G-A	APOB	c.3697-79C>T	-	IntronicSNV	-	23/28
2-21237544-G-T	APOB	c.3697-79C>A	-	IntronicSNV	-	23/28
16-68024995-G-A	DPEP2	c.732+23C>T	-	IntronicSNV	-	6/10
16-57007353-C-T	CETP	c.861C>T	p.F287=	Synonymous	9/16	-
8-19819536-T-G	LPL	c.1323-90T>G	-	IntronicSNV	-	8/9
19-45422587-A-G	APOC1	c.*100A>G	-	3-UTRSNV	4/4	-
2-44074000-G-A	ABCG8	c.322+550G>A	-	IntronicSNV	-	3/12
16-72108093-G-A	HPR	c.92-90G>A	-	IntronicSNV	-	2/4
1-230300586-C-G	GALNT2	c.127-13378C>G	-	IntronicSNV	-	1/15
1-230300586-C-T	GALNT2	c.127-13378C>T	-	IntronicSNV	-	1/15
16-57006590-C-G	CETP	c.750+595C>G	-	IntronicSNV	-	8/15
16-57006590-C-T	CETP	c.750+595C>T	-	IntronicSNV	-	8/15
19-45421254-G-A	APOC1	c.195-1176G>A	-	IntronicSNV	-	3/3
16-57007446-T-A	CETP	c.930+24T>A	-	IntronicSNV	-	9/15
11-116653296-C-G	ZPR1	c.1093-336G>C	-	IntronicSNV	-	11/13
11-116653296-C-T	ZPR1	c.1093-336G>A	-	IntronicSNV	-	11/13
16-57007446-T-G	CETP	c.930+24T>G	-	IntronicSNV	-	9/15
16-67976851-C-G	LCAT	c.340G>C	p.V114L	Missense	3/6	-
19-8431581-G-A	ANGPTL4	c.547+378G>A	-	IntronicSNV	-	3/6
19-8431581-G-C	ANGPTL4	c.547+378G>C	-	IntronicSNV	-	3/6
9-107594364-A-G	ABCA1	c.1510-256T>C	-	IntronicSNV	-	12/49
1-55519174-G-A	PCSK9	c.799+710G>A	-	IntronicSNV	-	5/11
1-55519174-G-C	PCSK9	c.799+710G>C	-	IntronicSNV	-	5/11
9-107604197-G-T	ABCA1	c.814-1397C>A	-	IntronicSNV	-	8/49
1-109817192-A-G	CELSR2	c.*521A>G	-	3-UTRSNV	34/34	-
7-73026378-C-A	MLXIPL	c.400+4023G>T	-	IntronicSNV	-	2/16
7-73026378-C-T	MLXIPL	c.400+4023G>A	-	IntronicSNV	-	2/16
2-21229160-C-A	APOB	c.10580G>T	p.R3527L	Missense	26/29	-
11-116623659-C-T	BUD13	c.1766+4203G>A	-	IntronicSNV	-	9/9
16-67976851-C-T	LCAT	c.340G>A	p.V114M	Missense	3/6	-
16-67976851-C-A	LCAT	c.340G>T	p.V114L	Missense	3/6	-
1-55518160-C-A	PCSK9	c.657+76C>A	-	IntronicSNV	-	4/11
1-55518160-C-G	PCSK9	c.657+76C>G	-	IntronicSNV	-	4/11
19-11202460-T-A	LDLR	c.67+2169T>A	-	IntronicSNV	-	1/17
19-10388462-G-A	ICAM1	c.331+2758G>A	-	IntronicSNV	-	2/6