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: rs34598529
rs34598529
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Spectrum of α-thalassemia and β-thalassemia mutations in the Guilin Region of southern China. 26079343 2015
dbSNP: rs34598529
rs34598529
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. 19372376 2009
dbSNP: rs34598529
rs34598529
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient. 8435318 1993
dbSNP: rs34598529
rs34598529
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation. 2014803 1991
dbSNP: rs34598529
rs34598529
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Compound heterozygosity for a mild beta (+) and a rare beta(0)-thalassemia allele. 2123063 1990
dbSNP: rs34598529
rs34598529
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States. 2458145 1988
dbSNP: rs34598529
rs34598529
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR The spectrum of beta-thalassemia genes in China and Southeast Asia. 2875755 1986
dbSNP: rs34598529
rs34598529
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR "The same ""TATA"" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation." 3021607 1986
dbSNP: rs34598529
rs34598529
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Fine structure genetic analysis of a beta-globin promoter. 3457470 1986
dbSNP: rs34598529
rs34598529
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. 6583683 1984
dbSNP: rs34598529
rs34598529
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR "beta-Thalassemia in American Blacks: novel mutations in the ""TATA"" box and an acceptor splice site." 6583702 1984