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: rs41303501
rs41303501
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0018995
Disease:
Hemochromatosis 		0.010 GeneticVariation BEFREE Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R. 16424658 2006