PMID: 23726366

Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

American journal of human genetics

MA Coram, Q Duan, TJ Hoffmann, T Thornton, JW Knowles, NA Johnson, HM Ochs-Balcom, TA Donlon, LW Martin, CB Eaton, JG Robinson, NJ Risch, X Zhu, C Kooperberg, Y Li, AP Reiner, H Tang

2013-06-06

25 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
11-122530591-C-G	UBASH3B	c.161+3673C>G	-	IntronicSNV	-	1/13
2-27598097-T-C	SNX17	c.774+77T>C	-	IntronicSNV	-	9/14
7-80300449-T-G	CD36	c.975T>G	p.Tyr325*	Nonsense	10/14	-
8-19819439-A-G	LPL	c.1323-187A>G	-	IntronicSNV	-	8/9
9-107664301-C-T	ABCA1	c.66+1594G>A	-	IntronicSNV	-	2/49
1-55523802-A-G	PCSK9	c.1274A>G	p.Asn425Ser	Missense	8/12	-
1-55529215-C-A	PCSK9	c.2037C>A	p.Cys679*	Nonsense	12/12	-
9-100884564-C-A	CORO2A	c.*2492G>T	-	3-UTRSNV	12/12	-
11-120152591-C-T	POU2F3	c.138+12638C>T	-	IntronicSNV	-	3/12
1-55529187-G-A	PCSK9	c.2009G>A	p.Gly670Glu	Missense	12/12	-
11-122611723-A-T	UBASH3B	c.162-35204A>T	-	IntronicSNV	-	1/13
11-116652423-G-C	ZPR1	c.1179+451C>G	-	IntronicSNV	-	12/13
11-116652423-G-A	ZPR1	c.1179+451C>T	-	IntronicSNV	-	12/13
11-116652423-G-T	ZPR1	c.1179+451C>A	-	IntronicSNV	-	12/13
11-122611723-A-G	UBASH3B	c.162-35204A>G	-	IntronicSNV	-	1/13
1-55523855-G-A	PCSK9	c.1327G>A	p.Ala443Thr	Missense	8/12	-
19-11342703-A-G	DOCK6	c.2718+1176T>C	-	IntronicSNV	-	22/47
2-21241505-A-G	APOB	c.3121+359T>C	-	IntronicSNV	-	20/28
1-55625548-C-T	USP24	c.994-190G>A	-	IntronicSNV	-	8/67
2-44074431-C-A	ABCG8	c.322+981C>A	-	IntronicSNV	-	3/12
9-107589134-A-T	ABCA1	c.2337+95T>A	-	IntronicSNV	-	16/49
2-44074431-C-T	ABCG8	c.322+981C>T	-	IntronicSNV	-	3/12
19-45403412-C-T	TOMM40	c.644-575C>T	-	IntronicSNV	-	6/9
9-101087286-G-A	GABBR2	c.1894-13799C>T	-	IntronicSNV	-	13/18
9-101172234-G-A	GABBR2	c.1237-3811C>T	-	IntronicSNV	-	7/18