PMID: 21738485

Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.

PLoS genetics
L Dumitrescu, CL Carty, K Taylor, FR Schumacher, LA Hindorff, JL Ambite, G Anderson, LG Best, K Brown-Gentry, P Bůžková, CS Carlson, B Cochran, SA Cole, RB Devereux, D Duggan, CB Eaton, M Fornage, N Franceschini, J Haessler, BV Howard, KC Johnson, S Laston, LN Kolonel, ET Lee, JW MacCluer, TA Manolio, SA Pendergrass, M Quibrera, RV Shohet, LR Wilkens, CA Haiman, L Le Marchand, S Buyske, C Kooperberg, KE North, DC Crawford
2011-06

27 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
16-56919348-C-A SLC12A3 c.1925+72C>A - IntronicSNV - 15/25
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
16-56919348-C-G SLC12A3 c.1925+72C>G - IntronicSNV - 15/25
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6