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: rs34704828
rs34704828
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia. 20704537 2010
dbSNP: rs34704828
rs34704828
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR Clinical and molecular aspects of haemoglobinopathies in Tunisia. 14734204 2004
dbSNP: rs34704828
rs34704828
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis. 15108284 2004
dbSNP: rs34704828
rs34704828
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: rs34704828
rs34704828
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles. 11857746 2002
dbSNP: rs34704828
rs34704828
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR beta-Thalassaemia intermedia in a Turkish girl: homozygosity for G-->A substitution at +22 relative to the beta-globin cap site. 11722417 2001
dbSNP: rs34704828
rs34704828
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR A downstream element in the human beta-globin promoter: evidence of extended sequence-specific transcription factor IID contacts. 10840054 2000
dbSNP: rs34704828
rs34704828
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 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: rs34704828
rs34704828
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease:
Hemoglobinopathies 		T 0.700 CausalMutation CLINVAR Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene. 1536956 1992