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: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR The mechanism by which TATA-box polymorphisms associated with human hereditary diseases influence interactions with the TATA-binding protein. 24616209 2014
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR beta-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C --> T/-28 A --> C. 19960060 2009
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity. 18976160 2008
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations. 17994378 2007
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Mutations associated with beta-thalassemia intermedia in Kuwait. 16103715 2005
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Clinical and molecular aspects of haemoglobinopathies in Tunisia. 14734204 2004
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR A novel beta+-thalassemia mutation (codon 10 GCC --> GCA) and a rare transcriptional mutation (-28A --> G) in Indians. 9160698 1997
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Haplotype analysis of the Mexican frameshift Cd 11 (-T) and -28 A->C beta-thalassemia alleles. 8619407 1996
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient. 8435318 1993
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Beta-thalassemia in Turkey. 2200760 1990
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Functional analysis of a beta-globin gene containing a TATA box mutation from a Kurdish Jew with beta thalassemia. 2987224 1985
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR ATA box transcription mutation in beta-thalassemia. 6308558 1983
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box. 7076659 1982
dbSNP: rs33931746
rs33931746
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR