Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		A 0.800 CausalMutation CLINVAR EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). 26153218

2016
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		A 0.800 CausalMutation CLINVAR Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. 26365338

2015
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		A 0.800 CausalMutation CLINVAR The molecular genetics of haemochromatosis. 16132052

2005
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		A 0.800 CausalMutation CLINVAR Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. 9356458

1997
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		A 0.800 CausalMutation CLINVAR The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. 9162021

1997