PMID: 20308432

Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry.

Journal of lipid research
I Miljkovic, LM Yerges-Armstrong, LH Kuller, AL Kuipers, X Wang, CM Kammerer, CS Nestlerode, CH Bunker, AL Patrick, VW Wheeler, RW Evans, JM Zmuda
2010-07

17 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55514956-G-A PCSK9 c.523+2637G>A - IntronicSNV - 3/11
20-43044362-C-G HNF4A c.648+1060C>G - IntronicSNV - 5/9
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
2-11911003-C-T LPIN1 c.289-495C>T - IntronicSNV - 3/19
19-11226800-C-T LDLR c.1617C>T p.Pro539Pro Synonymous 11/18 -
20-43042950-A-C HNF4A c.493-197A>C - IntronicSNV - 4/9
19-11238877-G-A LDLR c.2389+116G>A - IntronicSNV - 16/17
20-43044362-C-T HNF4A c.648+1060C>T - IntronicSNV - 5/9
20-43058096-C-G HNF4A c.1283-67C>G - IntronicSNV - 9/9
19-11242307-G-C LDLR c.*315G>C - 3-UTRSNV 18/18 -
20-43053588-A-T HNF4A c.1129+694A>T - IntronicSNV - 8/9
20-43053588-A-G HNF4A c.1129+694A>G - IntronicSNV - 8/9
12-1831194-C-T ADIPOR2 c.-87+30837C>T - intron_variant - 1/7
19-11238877-G-T LDLR c.2389+116G>T - IntronicSNV - 16/17
20-43050761-T-G HNF4A c.893-1897T>G - IntronicSNV - 7/9
20-43051213-T-C HNF4A c.893-1445T>C - IntronicSNV - 7/9
19-11238239-C-G LDLR c.2312-445C>G - IntronicSNV - 15/17