rs33914668, HBB

N. diseases: 2
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 CausalMutation CLINVAR Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas. 22981786 2013
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Molecular spectrum of β-thalassemia mutations in the admixed Venezuelan population, and their linkage to β-globin gene haplotypes. 22563936 2012
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Hb S-β-thalassemia: molecular, hematological and clinical comparisons. 21250876 2011
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype. 9342003 1997
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Reverse dot-blot detection of the African-American beta-thalassemia mutations. 7632967 1995
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Reverse dot blot probes for the screening of beta-thalassemia mutations in Asians and American blacks. 8118466 1994
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Molecular characterization of Hb S(C) beta-thalassemia in American blacks. 1897518 1991
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Compound heterozygosity for a mild beta (+) and a rare beta(0)-thalassemia allele. 2123063 1990
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site. 2987809 1985
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation 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 CausalMutation CLINVAR