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: rs80356820
rs80356820
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries. 25677748 2015
dbSNP: rs80356820
rs80356820
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR South-Italy β°-thalassemia: a novel deletion not removing the γ-globin silencing element and with 3' breakpoint in a hsRTVL-H element, associated with β°-thalassemia and high levels of HbF. 23812938 2013
dbSNP: rs80356820
rs80356820
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR The beta-thalassemia mutation spectrum in the Iranian population. 11570721 2001
dbSNP: rs80356820
rs80356820
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products. 1545796 1992
dbSNP: rs80356820
rs80356820
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. 1986379 1991
dbSNP: rs80356820
rs80356820
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR mRNA-deficient beta o-thalassemia results from a single nucleotide deletion. 6292840 1982
dbSNP: rs80356820
rs80356820
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Unstable beta-globin mRNA in mRNA-deficient beta o thalassemia. 6101206 1981