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