TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Iron Overload ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768843272
rs768843272
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0282193
Disease:
Iron Overload 		0.010 GeneticVariation BEFREE We thus detected the novel TFR2 missense mutation I449V (exon 10; nt 1345 A --> G) in the proband's wife and daughter, neither of whom had anemia or iron overload. 16540354 2006