PMID: 23634756

Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study.

BMC genetics
KC Taylor, CL Carty, L Dumitrescu, P Bůžková, SA Cole, L Hindorff, FR Schumacher, LR Wilkens, RV Shohet, PM Quibrera, KC Johnson, BE Henderson, J Haessler, N Franceschini, CB Eaton, DJ Duggan, B Cochran, I Cheng, CS Carlson, K Brown-Gentry, G Anderson, JL Ambite, C Haiman, L Le Marchand, C Kooperberg, DC Crawford, S Buyske, KE North, M Fornage,
2013-05-01

31 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
16-57006590-C-G CETP c.750+595C>G - IntronicSNV - 8/15
16-57006590-C-T CETP c.750+595C>T - IntronicSNV - 8/15
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
16-56919348-C-G SLC12A3 c.1925+72C>G - IntronicSNV - 15/25
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
1-230301776-G-C GALNT2 c.127-12188G>C - IntronicSNV - 1/15
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
20-44536932-G-A PLTP c.486-389C>T - IntronicSNV - 5/15
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
1-230301776-G-A GALNT2 c.127-12188G>A - IntronicSNV - 1/15
16-56919348-C-A SLC12A3 c.1925+72C>A - IntronicSNV - 15/25
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
20-44534651-G-A PLTP c.705+256C>T - IntronicSNV - 8/15
2-21263639-T-G APOB c.383+171A>C - IntronicSNV - 4/28
8-19824492-T-C LPL c.*1671T>C - 3-UTRSNV 10/10 -
8-19824492-T-A LPL c.*1671T>A - 3-UTRSNV 10/10 -
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
11-116633862-G-A BUD13 c.443C>T p.Pro148Leu Missense 4/10 -