Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750532
rs63750532
HBB
C 0.700 CausalMutation CLINVAR Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter. 9401495

1997

dbSNP: rs63750532
rs63750532
HBB
C 0.700 CausalMutation CLINVAR A significant beta-thalassemia heterogeneity in the United Arab Emirates. 9140720

1997

dbSNP: rs63750532
rs63750532
HBB
C 0.700 CausalMutation CLINVAR Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. 1986379

1991