Annotation Detail
Information
- Associated Genes
- TMPRSS6
- Associated Variants
-
TMPRSS6 p.Val749Ala (p.V749A)
(
ENST00000346753.9,
ENST00000381792.6,
ENST00000406725.6,
ENST00000406856.7,
ENST00000676104.1 )
TMPRSS6 p.Val749Asp (p.V749D) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000676104.1 )
TMPRSS6 p.Val749Ala (p.V749A) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000676104.1 )
TMPRSS6 p.Val749Asp (p.V749D) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000676104.1 ) - Associated Disease
- Iron Overload
- Source Database
- DisGeNET
- Description
- The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic fatty liver disease.
- Pubmed
- 23144979
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2012
Drugs