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: rs33986703
rs33986703
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.710 GeneticVariation BEFREE β-Thalassaemia mutations included CD17 (HBB:c.52A>T) and CD26 (HbE or HBB:c.79G>A). 26715484 2015
dbSNP: rs33986703
rs33986703
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR Molecular characterization of α- and β-thalassaemia among Malay patients. 24857915 2014
dbSNP: rs33986703
rs33986703
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		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
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR Prenatal and newborn screening for hemoglobinopathies. 23590658 2013
dbSNP: rs33986703
rs33986703
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR Molecular study and genotype/phenotype correlation of β Thalassemia in Malaysia. 22335963 2012
dbSNP: rs33986703
rs33986703
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 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: rs33986703
rs33986703
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR Preimplantation genetic diagnosis of beta-thalassemia using real-time polymerase chain reaction with fluorescence resonance energy transfer hybridization probes. 20035706 2010
dbSNP: rs33986703
rs33986703
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China. 20412082 2010
dbSNP: rs33986703
rs33986703
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR Hemoglobin E and codon 17 nonsense: two beta-globin gene mutations common in Southeast Asia detected by the use of ARMS. 8373896 1993
dbSNP: rs33986703
rs33986703
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.710 CausalMutation CLINVAR beta 0 thalassemia, a nonsense mutation in man. 88735 1979