PMID: 23382687

Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network.

PLoS genetics
SA Pendergrass, K Brown-Gentry, S Dudek, A Frase, ES Torstenson, R Goodloe, JL Ambite, CL Avery, S Buyske, P Bůžková, E Deelman, MD Fesinmeyer, CA Haiman, G Heiss, LA Hindorff, CN Hsu, RD Jackson, C Kooperberg, L Le Marchand, Y Lin, TC Matise, KR Monroe, L Moreland, SL Park, A Reiner, R Wallace, LR Wilkens, DC Crawford, MD Ritchie
2013

23 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
6-20661034-A-C CDKAL1 c.371+11426A>C - IntronicSNV - 5/15
16-56919348-C-A SLC12A3 c.1925+72C>A - IntronicSNV - 15/25
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
16-56919348-C-G SLC12A3 c.1925+72C>G - IntronicSNV - 15/25
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
11-2824800-G-T KCNQ1 c.1794+25533G>T - IntronicSNV - 15/15
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
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 -
22-36695247-G-T MYH9 c.2977-159C>A - IntronicSNV - 23/40
6-20657564-A-G CDKAL1 c.371+7956A>G - IntronicSNV - 5/15
4-9922167-C-T SLC2A9 c.757G>A p.Val253Ile Missense 8/13 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48