Gene: HBB ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs33933298
rs33933298
HBB
T 0.700 CausalMutation CLINVAR Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hb Ube‑2 [α68 (E17) Asn→Asp] and Hb Ube‑4 [α116 (GH4) Glu→Ala]. 21523319

2011
dbSNP: rs33941377
rs33941377
HBB
A 0.700 CausalMutation CLINVAR Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. 21423179

2011
dbSNP: rs33944208
rs33944208
HBB
T 0.700 CausalMutation CLINVAR Molecular basis of β-thalassemia in the United Arab Emirates. 22074124

2011
dbSNP: rs33950507
rs33950507
HBB
A 0.700 CausalMutation CLINVAR Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon. 21389146

2011
dbSNP: rs33974936
rs33974936
HBB
T 0.700 CausalMutation CLINVAR Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil. 21797703

2011
dbSNP: rs34563000
rs34563000
HBB
C 0.700 CausalMutation CLINVAR Molecular lesion frequency of hemoglobin gene disorders in Taiwan. 21599435

2011
dbSNP: rs35532010
rs35532010
HBB
AG 0.700 CausalMutation CLINVAR Molecular lesion frequency of hemoglobin gene disorders in Taiwan. 21599435

2011
dbSNP: rs33933298
rs33933298
HBB
T 0.700 CausalMutation CLINVAR Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. 20395516

2010
dbSNP: rs33933298
rs33933298
HBB
T 0.700 CausalMutation CLINVAR Abnormal hemoglobin phenotypes in carriers of mild anemia in Latin America. 20309827

2010
dbSNP: rs33941377
rs33941377
HBB
A 0.700 CausalMutation CLINVAR Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T. 20524821

2010
dbSNP: rs33941377
rs33941377
HBB
T 0.700 GeneticVariation CLINVAR Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques. 19437135

2010
dbSNP: rs33944208
rs33944208
HBB
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: rs33974936
rs33974936
HBB
T 0.700 CausalMutation CLINVAR Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. 20395516

2010
dbSNP: rs33974936
rs33974936
HBB
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: rs33985472
rs33985472
HBB
C 0.700 CausalMutation CLINVAR Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). 20437613

2010
dbSNP: rs33985472
rs33985472
HBB
C 0.700 CausalMutation CLINVAR Hemoglobinopathies in North Africa: a review. 20113284

2010
dbSNP: rs34704828
rs34704828
HBB
T 0.700 CausalMutation CLINVAR ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia. 20704537

2010
dbSNP: rs35619054
rs35619054
HBB
CAGAT 0.700 CausalMutation CLINVAR Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with thalassemia major. 20132300

2010
dbSNP: rs63750513
rs63750513
HBB
G 0.700 CausalMutation CLINVAR Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major. 19486366

2010
dbSNP: rs33922842
rs33922842
HBB
A 0.700 CausalMutation CLINVAR Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations. 19460936

2009
dbSNP: rs33941377
rs33941377
HBB
T 0.700 GeneticVariation CLINVAR Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations. 19460936

2009
dbSNP: rs33941377
rs33941377
HBB
A 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: rs33950507
rs33950507
HBB
A 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: rs33950507
rs33950507
HBB
A 0.700 CausalMutation CLINVAR Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. 19254853

2009
dbSNP: rs33974936
rs33974936
HBB
T 0.700 CausalMutation CLINVAR Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. 19254853

2009