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: rs35328027
rs35328027
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Effect of co-inheritance of β-thalassemia and hemochromatosis mutations on iron overload. 22122796 2012
dbSNP: rs35328027
rs35328027
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia. 20704537 2010
dbSNP: rs35328027
rs35328027
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. 20395516 2010
dbSNP: rs35328027
rs35328027
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs. 9560205 1998
dbSNP: rs35328027
rs35328027
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA. 2897787 1988
dbSNP: rs35328027
rs35328027
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Abnormal splice in a mutant human beta-globin gene not at the site of a mutation. 6298782 1983
dbSNP: rs35328027
rs35328027
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient. 6280138 1982