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: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760 2013
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Prenatal and newborn screening for hemoglobinopathies. 23590658 2013
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with thalassemia major. 20132300 2010
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Inherited hemoglobin disorders in Andhra Pradesh, India: a population study. 19000664 2009
dbSNP: rs33915217
rs33915217
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: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Molecular spectrum of beta-thalassemia in the Mexican population. 15315794 2005
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Changes in the epidemiology of thalassemia in North America: a new minority disease. 16291734 2005
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene. 15278762 2004
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Intrinsic differences between authentic and cryptic 5' splice sites. 14576320 2003
dbSNP: rs33915217
rs33915217
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: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians. 1917531 1991
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Beta-thalassemia in Turkey. 2200760 1990
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron. 2703241 1989
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Expression of a beta thalassemia gene with abnormal splicing. 3671081 1987
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing. 2439149 1987
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site. 3021139 1986
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Molecular characterization of seven beta-thalassemia mutations in Asian Indians. 6714226 1984
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes. 6188062 1983
dbSNP: rs33915217
rs33915217
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR