HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: Hemoglobinopathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype. 27821015 2016
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 GeneticVariation CLINVAR Genotyping of beta thalassemia trait by high-resolution DNA melting analysis. 24450243 2013
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. 21423179 2011
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T. 20524821 2010
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 GeneticVariation CLINVAR Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques. 19437135 2010
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 GeneticVariation CLINVAR Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations. 19460936 2009
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes. 21119755 2009
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 GeneticVariation CLINVAR HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. 11857738 2002
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles. 11857746 2002
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 GeneticVariation CLINVAR Reverse dot-blot detection of the African-American beta-thalassemia mutations. 7632967 1995
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 GeneticVariation CLINVAR The -87 (C----A) beta(+)-thalassemia mutation in a black family. 1428943 1992
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element. 2018842 1991
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 GeneticVariation CLINVAR Detection of beta-thalassemia mutations by ASO hybridization of PCR amplified DNA with digoxigenin ddUTP labeled oligonucleotides. 1814858 1991
dbSNP: rs33941377
rs33941377
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 GeneticVariation CLINVAR Fine structure genetic analysis of a beta-globin promoter. 3457470 1986