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
Hemoglobin Adverse Event
Source Database
DisGeNET
Description
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.
Pubmed
19820698
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.122367031978602
Year of publication
2009
Drugs