Annotation Detail
Information
- Associated Genes
- HAMP
- Associated Variants
-
NC_000020.11:g.6786464A>G
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.Asp512= (p.D512=) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000676104.1 )
TF c.1330+278G>A ( ENST00000402696.9 )
TFR2 c.473+2339G>T ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
NC_000020.11:g.6786464A>G
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.Asp512= (p.D512=) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000676104.1 )
TF c.1330+278G>A ( ENST00000402696.9 )
TFR2 c.473+2339G>T ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 ) - Associated Disease
- iron deficiency anemia
- Source Database
- DisGeNET
- Description
- To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regulation pathways with the risk of iron-deficiency anemia (IDA), the following single nucleotide polymorphisms were genotyped in 2139 unrelated elderly Chinese women: rs3811647 (TF), rs7385804 (TFR2), rs235756 (BMP2), and rs855791(V736A) and rs4820268 (TMPRSS6, encoding matriptase-2).
- Pubmed
- 22323359
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2012
Drugs