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: rs202068193
rs202068193
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0392514
Disease:
Hereditary hemochromatosis 		0.010 GeneticVariation BEFREE The novel p.V256I mutation could not be implicated in the molecular basis of the HH phenotype, although its role cannot be completely excluded in HH-phenotype development. 20843714 2010