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
Finding of Mean Corpuscular Hemoglobin
Source Database
DisGeNET
Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
Pubmed
20139978
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.122367031978602
Year of publication
2010
Drugs