rs80338880, TFR2

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Porphyria Cutanea Tarda
CUI: C0162566
Disease: Porphyria Cutanea Tarda
0.020 GeneticVariation BEFREE To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes. 18565178 2008
Porphyria Cutanea Tarda
CUI: C0162566
Disease: Porphyria Cutanea Tarda
0.020 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