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: rs63750783
rs63750783
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon. 21389146 2011
dbSNP: rs63750783
rs63750783
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 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: rs63750783
rs63750783
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene. 15278762 2004