HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		0.850 GeneticVariation BEFREE We also show that HiFi Cas9 mediates high-level correction of the sickle cell disease (SCD)-causing p.E6V mutation in HSPCs derived from patients with SCD. 30082871 2018
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		A 0.850 CausalMutation CLINVAR The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area). 26275168 2016
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		0.850 GeneticVariation BEFREE We also show efficient correction of the Glu6Val mutation responsible for sickle cell disease by using patient-derived stem and progenitor cells that, after differentiation into erythrocytes, express adult β-globin (HbA) messenger RNA, which confirms intact transcriptional regulation of edited HBB alleles. 27820943 2016
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		0.850 GeneticVariation BEFREE Sickle cell anemia (SCA) is an autosomal recessive disease caused by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis. 27814292 2016
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		A 0.850 CausalMutation CLINVAR Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience. 25023084 2014
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		A 0.850 CausalMutation CLINVAR Prevalence of the β(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India. 25023085 2014
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		0.850 GeneticVariation UNIPROT Structure of fully liganded Hb ζ2β2s trapped in a tense conformation. 24100324 2013
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		0.850 GeneticVariation BEFREE Sickle cell anemia (SCA, HBB glu6val) is characterized by multiple complications and a high degree of phenotypic variability: some subjects have only sporadic pain crises and few acute hospitalizations, while others experience multiple serious complications, high levels of morbidity, and accelerated mortality [1]. 21264913 2011
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		0.850 GeneticVariation BEFREE Thalassaemia and sickle cell disease (SCD) represent the most common forms of hereditary haemolytic anaemia and result from a partial or complete lack of synthesis of one of the major alpha- or beta-globin chains of haemoglobin A or from a single amino acid mutation (beta(6Glu-->Val)) of the beta-globin chain respectively. 17854302 2007
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		0.850 GeneticVariation UNIPROT How malaria has affected the human genome and what human genetics can teach us about malaria. 16001361 2005
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		0.850 GeneticVariation UNIPROT Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution. 1195378 1975
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002895
Disease:
Anemia, Sickle Cell 		0.850 GeneticVariation UNIPROT Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. 13464827 1957
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0024530
Disease:
Malaria 		0.810 GeneticVariation GWASCAT Novel genetic polymorphisms associated with severe malaria and under selective pressure in North-eastern Tanzania. 29381699 2018
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: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0024530
Disease:
Malaria 		0.810 GeneticVariation BEFREE Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated with protection from uncomplicated malaria and anaemia respectively in this study. 24312262 2013
dbSNP: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0024530
Disease:
Malaria 		0.810 GeneticVariation GWASDB Genome-wide association study indicates two novel resistance loci for severe malaria. 22895189 2012
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: rs334
rs334
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0024530
Disease:
Malaria 		0.810 GeneticVariation GWASDB Genome-wide and fine-resolution association analysis of malaria in West Africa. 19465909 2009
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