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
- thalassemia
- Source Database
- DisGeNET
- Description
- These results indicate that TMPRSS6 polymorphisms are more frequent in subjects with persistent IDA than in healthy controls, and in thalassemia carriers V736A variant may account for lower hemoglobin and MCV levels.
- Pubmed
- 25557470
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs