TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Hemochromatosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338886
rs80338886
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0018995
Disease:
Hemochromatosis 		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