PMID: 24256507

Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III).

BMC medical genetics
R Goodloe, K Brown-Gentry, NB Gillani, H Jin, P Mayo, M Allen, B McClellan, J Boston, C Sutcliffe, N Schnetz-Boutaud, HH Dilks, DC Crawford
2013-11-21

10 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
2-44066247-G-C ABCG8 c.55G>C p.Asp19His Missense 1/13 -
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48