Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799945
rs1799945
0.040 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: rs1799945
rs1799945
0.040 GeneticVariation BEFREE This study will be completed by determining whether homozygote trait for H63D and associated risk factors (beta thalassémia) can lead to iron overload in Tunisia. 15581829

2005

dbSNP: rs1799945
rs1799945
0.040 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

dbSNP: rs1799945
rs1799945
0.040 GeneticVariation BEFREE beta-thalassemia carriers who are homozygotes for the H63D mutation have higher ferritin levels than beta-thalassemia carriers with the H/H genotype, suggesting that the H63D mutation may have a modulating effect on iron absorption. 11869934

2002