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: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Clinical and Molecular Characteristics of Non-Transfusion-Dependent Thalassemia in Kuwait. 26076396 2015
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). 20437613 2010
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia. 20704537 2010
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Three new beta-thalassemia mutations with varying degrees of severity. 19657836 2009
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia. 18603555 2008
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity. 18976160 2008
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR The molecular heterogeneity of beta-thalassemia in Greece. 18096416 2008
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. 17145605 2006
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Clinical and molecular aspects of haemoglobinopathies in Tunisia. 14734204 2004
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles. 11857746 2002
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing. 12368169 2002
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes. 10606872 1999
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR A significant beta-thalassemia heterogeneity in the United Arab Emirates. 9140720 1997
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. 8980256 1997
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter. 9401495 1997
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Binding of nuclear factors to the proximal and distal CACCC motifs of the beta-globin gene promoter: implications for the -101 (C-->T) 'silent' beta-thalassemia mutation. 7909640 1994
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening. 8172199 1994
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR A promoter mutation of the beta-globin gene (-101 C-->T) has an age-related expression pattern. 7683931 1993
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations. 2001456 1991
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population. 2346726 1990
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Beta-thalassemia in Turkey. 2200760 1990
dbSNP: rs63751208
rs63751208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR "A C----T substitution at nt--101 in a conserved DNA sequence of the promotor region of the beta-globin gene is associated with ""silent"" beta-thalassemia." 2713503 1989