Gene: HBB ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs33950507
rs33950507
HBB
A 0.810 CausalMutation CLINVAR Molecular Characterization of β-Thalassemia Mutations in Central Vietnam. 28671035

2017
dbSNP: rs33950507
rs33950507
HBB
T 0.810 CausalMutation CLINVAR Hemoglobin Constant Spring is markedly high in women of an ethnic minority group in Vietnam: a community-based survey and hematologic features. 24368026

2014
dbSNP: rs33950507
rs33950507
HBB
A 0.810 CausalMutation CLINVAR Unspliced precursors of NMD-sensitive β-globin transcripts exhibit decreased steady-state levels in erythroid cells. 22675570

2012
dbSNP: rs33950507
rs33950507
HBB
T 0.810 CausalMutation CLINVAR In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene. 22028795

2011
dbSNP: rs33950507
rs33950507
HBB
A 0.810 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: rs33950507
rs33950507
HBB
T 0.810 CausalMutation CLINVAR Hemoglobin SE disease: a concise review. 17278112

2007
dbSNP: rs33950507
rs33950507
HBB
A 0.810 CausalMutation CLINVAR Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens. 1974422

1990
dbSNP: rs33950507
rs33950507
HBB
T 0.810 CausalMutation CLINVAR Abnormal RNA processing due to the exon mutation of beta E-globin gene. 7177196

1982
dbSNP: rs33950507
rs33950507
HBB
T 0.810 CausalMutation CLINVAR Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys). 6166632

1981
dbSNP: rs33950507
rs33950507
HBB
T 0.810 CausalMutation CLINVAR Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. 7395858

1980
dbSNP: rs33925391
rs33925391
HBB
C 0.800 CausalMutation CLINVAR Problems in determining thalassemia carrier status in a program for prevention and control of severe thalassemia syndromes: a lesson from Thailand. 23525874

2013
dbSNP: rs33925391
rs33925391
HBB
C 0.800 CausalMutation CLINVAR Neapolis (CD 126 beta+ GGT->GGG): a result of a screening in Campania, a region in Southern Italy. 17606453

2007
dbSNP: rs33925391
rs33925391
HBB
C 0.800 CausalMutation CLINVAR Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations. 17994378

2007
dbSNP: rs33925391
rs33925391
HBB
C 0.800 CausalMutation CLINVAR Compound heterozygosity for Hb Lepore-Boston and Hb Neapolis (Dhonburi) [beta 126(H4)Val-->Gly] in a patient from Naples, Italy. 9028819

1997
dbSNP: rs33925391
rs33925391
HBB
C 0.800 CausalMutation CLINVAR Genetic heterogeneity of beta-thalassemia in southeast Sicily. 7530406

1995
dbSNP: rs33925391
rs33925391
HBB
C 0.800 CausalMutation CLINVAR Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia. 1463768

1992
dbSNP: rs33925391
rs33925391
HBB
C 0.800 CausalMutation CLINVAR Hemoglobin Neapolis, beta 126(H4)Val----Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features. 1954392

1991
dbSNP: rs11549407
rs11549407
HBB
A 0.710 CausalMutation CLINVAR Identification of a novel mutation in the β-globin gene 3' untranslated region (HBB: c.*+118A > G) in Spain. 25572186

2015
dbSNP: rs11549407
rs11549407
HBB
A 0.710 CausalMutation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612

2014
dbSNP: rs33986703
rs33986703
HBB
A 0.710 CausalMutation CLINVAR High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. 25089872

2014
dbSNP: rs33986703
rs33986703
HBB
A 0.710 CausalMutation CLINVAR Molecular characterization of α- and β-thalassaemia among Malay patients. 24857915

2014
dbSNP: rs11549407
rs11549407
HBB
A 0.710 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
dbSNP: rs11549407
rs11549407
HBB
A 0.710 CausalMutation CLINVAR The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. 23321370

2013
dbSNP: rs33986703
rs33986703
HBB
A 0.710 CausalMutation CLINVAR Prenatal and newborn screening for hemoglobinopathies. 23590658

2013
dbSNP: rs11549407
rs11549407
HBB
A 0.710 CausalMutation CLINVAR Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion. 22271886

2012