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