PMID: 25920552

Rodriguez S, Gaunt TR, Guo Y, Zheng J, Barnes MR, Tang W, Danish F, Johnson A, Castillo BA, Li YR, Hakonarson H, Buxbaum SG, Palmer T, Tsai MY, Lange LA, Ebrahim S, Davey Smith G, Lawlor DA, Folsom AR, Hoogeveen R, Reiner A, Keating B, Day IN
Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.
Eur J Hum Genet. 2016 Jan;24(1):106-12. doi: 10.1038/ejhg.2015.63. Epub 2015 Apr 29., [PubMed]
Sentences
No. Mutations Sentence Comment
137 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 25920552:137:167
status: NEW
view ABCG8 p.Asp19His details
 Our leading SNP, rs4953023:G4A (P = 7.41&#d7; 10-47, effect size = 0.734) is in perfect LD with the previously reported rs11887534:G4C (NM_022437.2(ABCG8): c.55G4C (p.Asp19His). Login to comment 139 ABCG8 p.Tyr54Cys
X
ABCG8 p.Tyr54Cys 25920552:139:142
status: NEW
view ABCG8 p.Tyr54Cys details
 The rs4299376:G4T variant, also in ABCG8, tags an independent effect, possibly reflecting an earlier report of NM_022437.2(ABCG8):c.161A4G (p.Tyr54Cys) (r2 ~ 0.2 between rs4299376:G4T and rs4148211:A4G in Europeans) on GBD in Taiwanese. Login to comment 140 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 25920552:140:133
status: NEW
view ABCG5 p.Gln604Glu details
 Two further independent SNPs were identified in ABCG5, rs10439467:C4T in intron 10 and rs6720173:G4C NM_022436.2 (ABCG5)c.1810C4G (p.Gln604Glu). Login to comment