TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Hereditary hemochromatosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750609759
rs750609759
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0392514
Disease:
Hereditary hemochromatosis 		C 0.700 GeneticVariation CLINVAR Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3. 26029709 2015
dbSNP: rs750609759
rs750609759
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0392514
Disease:
Hereditary hemochromatosis 		C 0.700 GeneticVariation CLINVAR Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations. 23600741 2013