PMID: 18852197

Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

Human molecular genetics
KL Mohlke, M Boehnke, GR Abecasis
2008-10-15

23 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-121424861-A-G HNF1A c.327-1775A>G - IntronicSNV - 1/9
12-121424861-A-C HNF1A c.327-1775A>C - IntronicSNV - 1/9
6-151252985-G-A MTHFD1L c.1257-4955G>A - IntronicSNV - 11/27
19-19329924-C-A NCAN c.274C>A p.Pro92Thr Missense 3/15 -
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
19-45410002-G-A APOE c.43+78G>A - IntronicSNV - 2/3
12-121424861-A-T HNF1A c.327-1775A>T - IntronicSNV - 1/9
18-58039276-C-T MC4R c.307G>A p.Val103Ile Missense 1/1 -
1-162085685-G-T NOS1AP c.106-38510G>T - IntronicSNV - 1/9
7-73020337-C-G MLXIPL c.723G>C p.Gln241His Missense 6/17 -
19-19329924-C-T NCAN c.274C>T p.Pro92Ser Missense 3/15 -
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
18-58038832-T-G MC4R c.751A>C p.Ile251Leu Missense 1/1 -
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
20-36399580-G-T CTNNBL1 c.750+3134G>T - IntronicSNV - 7/15
4-9935910-A-G SLC2A9 c.727+7627T>C - IntronicSNV - 7/12
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
6-20657564-A-G CDKAL1 c.371+7956A>G - IntronicSNV - 5/15