PMID: 25474351

Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study.

PLoS genetics
MA Hall, A Verma, KD Brown-Gentry, R Goodloe, J Boston, S Wilson, B McClellan, C Sutcliffe, HH Dilks, NB Gillani, H Jin, P Mayo, M Allen, N Schnetz-Boutaud, DC Crawford, MD Ritchie, SA Pendergrass
2014-12

44 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-65695136-C-A IGDCC4 c.564-311G>T - IntronicSNV - 3/19
15-65695136-C-T IGDCC4 c.564-311G>A - IntronicSNV - 3/19
11-68201295-C-T LRP5 c.3989C>T p.Ala1330Val Missense 18/23 -
2-43732823-T-C THADA c.3559A>G p.Thr1187Ala Missense 24/38 -
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
9-104362937-A-G GRIN3A c.2766+12721T>C - IntronicSNV - 6/8
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
4-9935910-A-G SLC2A9 c.727+7627T>C - IntronicSNV - 7/12
4-9966380-A-G SLC2A9 c.594+15836T>C - IntronicSNV - 6/12
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 -
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
16-28883241-A-T SH2B1 c.1450A>T p.Thr484Ser Missense 5/9 -
16-28883241-A-G SH2B1 c.1450A>G p.Thr484Ala Missense 5/9 -
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
3-118948171-A-G B4GALT4 c.253+523T>C - IntronicSNV - 3/7
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
16-56919348-C-G SLC12A3 c.1925+72C>G - IntronicSNV - 15/25
16-56919348-C-A SLC12A3 c.1925+72C>A - IntronicSNV - 15/25
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
9-107647655-G-A ABCA1 c.161-806C>T - 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 -
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
6-20657564-A-G CDKAL1 c.371+7956A>G - IntronicSNV - 5/15
11-2857194-A-T KCNQ1 c.1795-11803A>T - IntronicSNV - 15/15
11-2857194-A-C KCNQ1 c.1795-11803A>C - IntronicSNV - 15/15
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
19-11163562-C-T SMARCA4 c.4425-5369C>T - IntronicSNV - 30/34