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: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China. 26877226 2017
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China. 25849334 2015
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Clinical characteristics of pediatric thalassemia in Korea: a single institute experience. 24265529 2013
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Spectrum of β-thalassemia mutations in Guizhou Province, PR China, including first observation of codon 121 (GAA>TAA) in Chinese population. 24080465 2013
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene. 22028795 2011
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Potential of denaturing gradient gel electrophoresis for scanning of beta-thalassemia mutations in India. 10367791 1999
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Phenotype variability of the dominant beta-thalassemia induced in four Dutch families by the rare cd121 (G-->T) mutation. 9875660 1998
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Erythroblastic inclusions in dominantly inherited beta thalassemias. 8978308 1997
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Beta-thalassaemia in the immigrant and non-immigrant German populations. 9163586 1997
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR beta-thalassemia mutations in Japanese and Koreans. 9101288 1997
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia. 8161774 1994
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Molecular characterization of beta-thalassemia in Czechoslovakia. 1740317 1992
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Two beta-thalassemia mutations in Japan: codon 121 (GAA----TAA) and IVS-I-130 (G----C). 1517108 1992
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Molecular basis for dominantly inherited inclusion body beta-thalassemia. 1971109 1990
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Isolation and characterization of the translation product of a beta-globin gene nonsense mutation (beta 121 GAA----TAA). 2207008 1990
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain. 2563949 1989
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Characterization of a spontaneous mutation to a beta-thalassemia allele. 3014870 1986
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR A note about the incidence and origin of Hb D-Punjab in Xinjiang, People's Republic of China. 3557998 1986
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR The first observation of Hb D Punjab beta zero thalassaemia in an English family with 22 cases of unsuspected beta zero thalassaemia minor among its members. 4078867 1985
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR Homozygous haemoglobin D Punjab. 1177278 1975
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR Hemoglobin D Los Angeles in two Caucasian families: hemoglobin SD disease and hemoglobin D thalassemia. 5672850 1968
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs33946267
rs33946267
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR