HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: HEMOCHROMATOSIS, TYPE 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781516027
rs781516027
Entrez Id: 3077;108783645
Gene Symbol: HFE;LOC108783645
HFE;LOC108783645
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.010 GeneticVariation BEFREE Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies. 23953397 2014