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: rs748882267
rs748882267
Entrez Id: 3077
Gene Symbol: HFE
HFE
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		0.010 GeneticVariation BEFREE The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years. 15749661 2005