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: rs111033563
rs111033563
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C0392514
Disease:
Hereditary hemochromatosis 		0.010 GeneticVariation BEFREE Combined, our results indicate that the Q283P mutation leads to structural and functional consequences similar to those described for the main hereditary hemochromatosis mutation. 15965644 2005