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: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR Prenatal and newborn screening for hemoglobinopathies. 23590658 2013
dbSNP: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia. 20704537 2010
dbSNP: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes. 21119755 2009
dbSNP: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. 19254853 2009
dbSNP: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. 18294253 2008
dbSNP: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis. 12709369 2003
dbSNP: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 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: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR Reverse dot-blot detection of the African-American beta-thalassemia mutations. 7632967 1995
dbSNP: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene. 1586746 1992
dbSNP: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR Mean corpuscular volume of heterozygotes for beta-thalassemia correlates with the severity of mutations. 1728311 1992
dbSNP: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR Molecular characterization of Hb S(C) beta-thalassemia in American blacks. 1897518 1991
dbSNP: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States. 2458145 1988
dbSNP: rs35225141
rs35225141
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		GC 0.700 CausalMutation CLINVAR Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. 3683554 1987