HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: Hereditary hemochromatosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35201683
rs35201683
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C0392514
Disease:
Hereditary hemochromatosis 		0.010 GeneticVariation BEFREE Thus, the Y250X mutation could be the molecular defect responsible for hereditary hemochromatosis in subjects with atypical HFE genotypes. 11358390 2001