rs33951465, HBB

N. diseases: 3
Disease: beta Thalassemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 GeneticVariation CLINVAR Prenatal and newborn screening for hemoglobinopathies. 23590658 2013
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 GeneticVariation CLINVAR Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States. 2458145 1988
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 GeneticVariation CLINVAR "beta-Thalassemia in American Blacks: novel mutations in the ""TATA"" box and an acceptor splice site." 6583702 1984
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 GeneticVariation CLINVAR """Silent"" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA." 6572978 1983
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR