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: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.810 CausalMutation CLINVAR Molecular Characterization of β-Thalassemia Mutations in Central Vietnam. 28671035 2017
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.810 GeneticVariation BEFREE β-Thalassaemia mutations included CD17 (HBB:c.52A>T) and CD26 (HbE or HBB:c.79G>A). 26715484 2015
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		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
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		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
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.810 CausalMutation CLINVAR In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene. 22028795 2011
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		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
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.810 CausalMutation CLINVAR Hemoglobin SE disease: a concise review. 17278112 2007
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.810 GeneticVariation UNIPROT The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. 15481886 2004
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.810 GeneticVariation UNIPROT Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia. 12144064 2002
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.810 GeneticVariation UNIPROT Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. 12149194 2002
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.810 GeneticVariation UNIPROT ACOG technical bulletin. Hemoglobinopathies in pregnancy. Number 220--February 1996 (replaces no. 185, October 1993). Committee on Technical Bulletins of the American College of Obstetricians and Gynecologists. 8735302 1996
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.810 GeneticVariation UNIPROT Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family. 7693620 1993
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		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
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.810 GeneticVariation UNIPROT Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val----Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia. 2399911 1990
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.810 CausalMutation CLINVAR Abnormal RNA processing due to the exon mutation of beta E-globin gene. 7177196 1982
dbSNP: rs33950507
rs33950507
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.810 GeneticVariation UNIPROT 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
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		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
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		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