Annotation Detail
Information
- Associated Genes
- ABCG8
- Associated Variants
-
ABCG8 p.Asp19Asn (p.D19N)
(
ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 )
ABCG8 p.Thr400Lys (p.T400K) ( ENST00000272286.4 )
ABCG8 p.Thr400Arg (p.T400R) ( ENST00000272286.4 )
ABCG8 p.Thr400Met (p.T400M) ( ENST00000272286.4 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 )
ABCG8 p.Thr400Lys (p.T400K) ( ENST00000272286.4 )
ABCG8 p.Thr400Arg (p.T400R) ( ENST00000272286.4 )
ABCG8 p.Thr400Met (p.T400M) ( ENST00000272286.4 ) - Associated Disease
- Cholesterol gallstones
- Source Database
- DisGeNET
- Description
- Studies have identified single nucleotide polymorphisms (SNP) D19H and T400K in the cholesterol transporter gene ATP-binding cassette, subfamily G, member 8 (ABCG8) in patients with cholesterol gallstones.
- Pubmed
- 20594224
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2010
Drugs