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: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		A 0.900 CausalMutation CLINVAR A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. 9292507

1997
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		A 0.900 CausalMutation CLINVAR The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. 9162021

1997
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		A 0.900 CausalMutation CLINVAR Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. 8943161

1996
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		A 0.900 CausalMutation CLINVAR A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 8696333

1996
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		A 0.900 CausalMutation CLINVAR A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. 8916933

1996
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		A 0.900 GeneticVariation CLINVAR