TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: HEMOCHROMATOSIS, TYPE 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338888
rs80338888
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs80338890
rs80338890
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80338891
rs80338891
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs200249435
rs200249435
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		0.010 GeneticVariation BEFREE By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies of the less frequently observed sequence deviations as substitution S65C in the HFE gene and mutation Y250X in the TFR2 gene underlying hemochromatosis type 3 (HFE3) were < 0.02 both in PCT patients and controls. 17298224 2006