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: 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: 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: 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: 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: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		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: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). 20437613 2010
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 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: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean. 10815781 2000
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Black beta-thalassemia homozygotes with specific sequence variations in the 5' hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin. 1384315 1992
dbSNP: rs33944208
rs33944208
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		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: C0019045
Disease:
Hemoglobinopathies 		A 0.700 CausalMutation CLINVAR Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. 6086605 1984