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: rs36015961
rs36015961
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		G 0.710 CausalMutation CLINVAR Beta-thalassemia in the Korean population. 12144056 2002
dbSNP: rs36015961
rs36015961
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		G 0.710 CausalMutation CLINVAR Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. 8980256 1997
dbSNP: rs36015961
rs36015961
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		G 0.710 CausalMutation CLINVAR We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG-->CCG) at codon 114 resulting in a leucine to proline substitution and designate it beta Durham-NC [beta 114 Leu-->Pro]. 8111050 1994
dbSNP: rs36015961
rs36015961
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		G 0.710 CausalMutation CLINVAR Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients. 8037185 1994
dbSNP: rs36015961
rs36015961
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		0.710 GeneticVariation BEFREE We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG-->CCG) at codon 114 resulting in a leucine to proline substitution and designate it beta Durham-NC [beta 114 Leu-->Pro]. 8111050 1994
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil. 28366028 2017
dbSNP: rs34856846
rs34856846
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR Three novel HBB mutations, c.-140C>G (-90 C>G), c.237_256delGGACAACCTCAAGGGCACCT (FS Cd 78/85 -20 bp), and c.315+2T>G (IVS2:2 T>G). Update of the mutational spectrum of β-Thalassemia in Mexican mestizo patients. 28603845 2017
dbSNP: rs63750513
rs63750513
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		G 0.700 CausalMutation CLINVAR Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population. 27828729 2017
dbSNP: rs33933298
rs33933298
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey. 27207683 2016
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: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR The Spectrum of β-Thalassemia Mutations in a Population from the Brazilian Amazon. 26372288 2016
dbSNP: rs33983276
rs33983276
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		C 0.700 GeneticVariation CLINVAR Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations. 26635043 2016
dbSNP: rs33922842
rs33922842
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 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: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR Spectrum of Beta Globin Gene Mutations in Egyptian Children with β-Thalassemia. 25408857 2014
dbSNP: rs35383398
rs35383398
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		AC 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: rs35424040
rs35424040
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia. 25332589 2014
dbSNP: rs35456885
rs35456885
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		C 0.700 CausalMutation CLINVAR Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations. 24828949 2014
dbSNP: rs35532010
rs35532010
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		AG 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: rs33922842
rs33922842
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China. 23383304 2013
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: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. 23321370 2013
dbSNP: rs35424040
rs35424040
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. 23321370 2013
dbSNP: rs35619054
rs35619054
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		CAGAT 0.700 CausalMutation CLINVAR Prenatal and newborn screening for hemoglobinopathies. 23590658 2013
dbSNP: rs35662066
rs35662066
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR Experience with multiplex ARMS (MARMS)-PCR for the detection of common β-thalassemia mutations in India. 22239493 2012
dbSNP: rs35662066
rs35662066
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population. 22392582 2012