HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1003586
rs1003586
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0200695
Disease:
Fetal hemoglobin determination 		0.700 GeneticVariation GWASDB Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 18245381 2008
dbSNP: rs111645889
rs111645889
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1141387
rs1141387
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C4693822
Disease:
ERYTHROCYTOSIS, FAMILIAL, 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1141387
rs1141387
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1527405
Disease:
Erythrocytosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 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: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. 23321370 2013
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA). 21417574 2011
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion. 22271886 2012
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.710 GeneticVariation BEFREE In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) accounts for >95% of beta-thalassemia cases. 10634824 2000
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760 2013
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR Identification of a novel mutation in the β-globin gene 3' untranslated region (HBB: c.*+118A > G) in Spain. 25572186 2015
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR Molecular characterization of beta-thalassemia in the Sardinian population. 1734721 1992
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR beta zero thalassemia in Sardinia is caused by a nonsense mutation. 6457059 1981
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C4693797
Disease:
METHEMOGLOBINEMIA, BETA TYPE 		A 0.700 CausalMutation CLINVAR
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1970028
Disease:
MALARIA, SUSCEPTIBILITY TO (finding) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002312
Disease:
alpha-Thalassemia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0271980
Disease:
beta^0^ Thalassemia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		A 0.700 CausalMutation CLINVAR
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1858990
Disease:
Beta Thalassemia, Dominant Inclusion Body Type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0700299
Disease:
Heinz Body Anemias 		A 0.700 CausalMutation CLINVAR
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C1841621
Disease:
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C4693822
Disease:
ERYTHROCYTOSIS, FAMILIAL, 6 		A 0.700 CausalMutation CLINVAR
dbSNP: rs11549407
rs11549407
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C3841475
Disease:
beta^+^ Thalassemia 		0.010 GeneticVariation BEFREE In this population, a single mutation of beta-globin gene (Q39X, beta(0) 39) accounts for >95% of beta-thalassemia cases. 10634824 2000