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: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China. 26290351 2015
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China. 25849334 2015
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR A genetic score for the prediction of beta-thalassemia severity. 25480500 2015
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR Variable phenotypes of sickle cell disease in India with the Arab-Indian haplotype. 25135424 2015
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Variable phenotypes of sickle cell disease in India with the Arab-Indian haplotype. 25135424 2015
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR Molecular Scanning of β-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program. 26291967 2015
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China. 25000193 2014
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Coexistence of two β-globin gene deletions in a Chinese girl with β-thalassemia minor. 24200214 2014
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR Coexistence of two β-globin gene deletions in a Chinese girl with β-thalassemia minor. 24200214 2014
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China. 25000193 2014
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. 25089872 2014
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR Towards a prevention program for β-thalassemia. The molecular spectrum in East Java, Indonesia. 22188014 2012
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR [Genetic study on 27 children with beta-thalassemia major and their parents in Sichuan area]. 15181845 2004
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening. 9113933 1997
dbSNP: rs80356821
rs80356821
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: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Molecular characterization of seven beta-thalassemia mutations in Asian Indians. 6714226 1984
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Structural analysis of a beta-thalassemia gene found in Taiwan. 6826539 1983
dbSNP: rs80356821
rs80356821
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR Structural analysis of a beta-thalassemia gene found in Taiwan. 6826539 1983