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: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR The First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran. 26948378 2017
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR). 27756326 2016
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation. 26076395 2015
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Clinical and Molecular Characteristics of Non-Transfusion-Dependent Thalassemia in Kuwait. 26076396 2015
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Spectrum of Beta Globin Gene Mutations in Egyptian Children with β-Thalassemia. 25408857 2014
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. 23321370 2013
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Clinical characteristics of pediatric thalassemia in Korea: a single institute experience. 24265529 2013
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Genotype-phenotype relationship of patients with β-thalassemia taking hydroxyurea: a 13-year experience in Iran. 22180324 2012
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Analyzing 5'HS3 and 5'HS4 LCR core regions and NF-E2 in Iranian thalassemia intermedia patients with normal or carrier status for beta-globin mutations. 21232998 2011
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Molecular basis of β-thalassemia in the United Arab Emirates. 22074124 2011
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR An unusually frequent beta-thalassemia mutation in an Iranian Province. 18654889 2008
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Beta-thalassaemia in the immigrant and non-immigrant German populations. 9163586 1997
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. 1986379 1991
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 GeneticVariation CLINVAR Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States. 2458145 1988
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 GeneticVariation CLINVAR Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. 6086605 1984
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR