Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.030 GeneticVariation BEFREE A total of 100 β thalassemia traits (BTT) with 100 normal individuals were screened for the C282Y and H63D mutations using PCR-RFLP. 27561698

2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.030 GeneticVariation BEFREE The chi-square test for multiple independent individuals indicated a significant difference among groups for the C282Y mutation, which was shown to be significant between the beta-thalassemia heterozygote and the control group by the Fisher exact test (P value = 0.009). 17160266

2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.030 GeneticVariation BEFREE Our study shows that H63D is prevalent and C282Y is rare in north Indians and the presence of 63D mutation does not increase body iron as measured by serum ferritin in beta thalassemia traits. 15777346

2005