HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: beta Thalassemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs33978907
rs33978907
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Variable haematological and clinical presentation of β-thalassaemia carriers and homozygotes with the Poly A (T→C) mutation in the Indian population. 22690826 2012
dbSNP: rs33978907
rs33978907
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. 18294253 2008
dbSNP: rs33978907
rs33978907
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene. 4018033 1985