Annotation Detail

Information
Associated Genes
ZNF627
Associated Variants
COL4A1 p.Gln1334His (p.Q1334H) ( ENST00000375820.10, ENST00000650424.2, ENST00000615732.3, ENST00000714330.1 )
COL4A1 p.Gln1334His (p.Q1334H) ( ENST00000375820.10, ENST00000615732.3, ENST00000650424.2, ENST00000714330.1 )
ZNF627 c.*98A>G ( ENST00000361113.10, ENST00000588174.1 )
COL4A1 p.Gln1334His (p.Q1334H) ( ENST00000375820.10, ENST00000615732.3, ENST00000650424.2, ENST00000714330.1 )
COL4A1 p.Gln1334His (p.Q1334H) ( ENST00000375820.10, ENST00000615732.3, ENST00000650424.2, ENST00000714330.1 )
ZNF627 c.*98A>G ( ENST00000361113.10, ENST00000588174.1 )
Associated Disease
Hypercholesterolemia
Source Database
DisGeNET
Description
Further examination by multivariable logistic regression analysis with adjustment for age, sex, body mass index and the prevalence of hypertension, diabetes mellitus and hypercholesterolaemia, in addition to a stepwise forward selection procedure found that the A-->C (Gln1334His) polymorphism (rs3742207) of the collagen type IV alpha-1 gene (COL4A1) and the A-->G polymorphism (rs4804611) of the zinc finger protein 627 gene (ZNF627) were significantly (p<0.05) associated with the prevalence of MI.
Pubmed
18077766
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2008
Drugs