Annotation Detail
Information
- Associated Genes
- HNF4A
- Associated Variants
-
R3HDML c.629+1005G>C
(
ENST00000217043.4 )
rs1884613
rs1884614
rs2144908 ( ENST00000316673.9, ENST00000457232.5, ENST00000609795.5 )
rs6031551 ( ENST00000316673.9, ENST00000457232.5, ENST00000609795.5 )
rs6031552 ( ENST00000316673.9, ENST00000457232.5, ENST00000609795.5 )
HNF4A c.385+2925G>A ( ENST00000316099.10, ENST00000316673.9, ENST00000415691.2, ENST00000443598.6, ENST00000457232.5, ENST00000609795.5 )
HNF4A c.893-1897T>G ( ENST00000316099.10, ENST00000316673.9, ENST00000415691.2, ENST00000443598.6, ENST00000457232.5, ENST00000609795.5 )
HNF4A c.1282+353G>T ( ENST00000316099.10, ENST00000316673.9, ENST00000415691.2, ENST00000457232.5 )
R3HDML c.629+1005G>C ( ENST00000217043.4 )
rs1884613
rs1884614
rs2144908 ( ENST00000316673.9, ENST00000457232.5, ENST00000609795.5 )
rs6031551 ( ENST00000316673.9, ENST00000457232.5, ENST00000609795.5 )
rs6031552 ( ENST00000316673.9, ENST00000457232.5, ENST00000609795.5 )
HNF4A c.385+2925G>A ( ENST00000316099.10, ENST00000316673.9, ENST00000415691.2, ENST00000443598.6, ENST00000457232.5, ENST00000609795.5 )
HNF4A c.893-1897T>G ( ENST00000316099.10, ENST00000316673.9, ENST00000415691.2, ENST00000443598.6, ENST00000457232.5, ENST00000609795.5 )
HNF4A c.1282+353G>T ( ENST00000316099.10, ENST00000316673.9, ENST00000415691.2, ENST00000457232.5 ) - Associated Disease
- Metabolic syndrome X
- Source Database
- DisGeNET
- Description
- Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region (rs2144908, rs6031551, rs6031552, rs1885088, rs1028583 and rs3818247) were genotyped in 160 subjects without diabetes or metabolic syndrome.
- Pubmed
- 21633728
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2011
Drugs