Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474387
rs199474387
HLA-A
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.030 GeneticVariation BEFREE Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis. 11887210

2002
dbSNP: rs199474387
rs199474387
HLA-A
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.030 GeneticVariation BEFREE A simple PCR-SSOP approach based on a single PCR product has been developed to screen the HFE gene for the haemochromatosis-associated mutations Cys 282 Tyr and His 63 Asp. 9864039

1998
dbSNP: rs199474387
rs199474387
HLA-A
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.030 GeneticVariation BEFREE In conclusion, a new association of the HFE H63D mutation with forms of hemochromatosis other than HH and a new association between the HLA phenotype A29 and the HFE H63D mutation were found in the same patients. 9510559

1998