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: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR [Symptomatic extramedullary haematopoiesis in β-thalassemia: A retrospective single centre study]. 26410419 2016
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation and report of novel mutations in β-globin gene in thalassemia patients. 25976460 2015
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries. 25677748 2015
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Molecular characterization of β-thalassemia in four communities in South Gujarat--codon 30 (G → A) a predominant mutation in the Kachhiya Patel community. 23665927 2013
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Hb E/β-thalassemia: the second most common cause of transfusion-dependent thalassemia in the Gwalior-Chambal region of Central India. 22738610 2012
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient. 21931510 2011
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). 20437613 2010
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis. 19429541 2009
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Molecular variants and clinical importance of beta-thalassaemia traits found in the state of Orissa, India. 19843386 2009
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. 18294253 2008
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Missense mutation of the last nucleotide of exon 1 (G->C) of beta globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele. 18056002 2007
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR The molecular basis of beta-thalassemia in Argentina. Influence of the pattern of immigration from the Mediterranean Basin. 15257926 2004
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene. 15278762 2004
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Spectrum of beta-thalassemia mutations and their association with allelic sequence polymorphisms at the beta-globin gene cluster in an Eastern Indian population. 12210807 2002
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR The Spectrum of beta-Thalassemia Mutations in the Arab Populations. 12488606 2001
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean. 10815781 2000
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR A significant beta-thalassemia heterogeneity in the United Arab Emirates. 9140720 1997
dbSNP: rs33960103
rs33960103
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. 2915972 1989