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: rs33945777
rs33945777
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs33945777
rs33945777
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia. 25332589 2014
dbSNP: rs33945777
rs33945777
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Prenatal and newborn screening for hemoglobinopathies. 23590658 2013
dbSNP: rs33945777
rs33945777
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Serum ferritin level as a predictor of impaired growth and puberty in thalassemia major patients. 15654898 2005
dbSNP: rs33945777
rs33945777
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Beta-thalassemia intermedia from southern Iran: IVS-II-1 (G-->A) is the prevalent thalassemia intermedia allele. 12144057 2002
dbSNP: rs33945777
rs33945777
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR A newly discovered beta O-thalassemia (IVS-II-850, G-->A) mutation in a north European family. 7558878 1995
dbSNP: rs33945777
rs33945777
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR Molecular analyses of beta-thalassemia in Iran. 8718703 1995
dbSNP: rs33945777
rs33945777
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Molecular characterization of beta-thalassemia in Azerbaijan. 1483699 1992
dbSNP: rs33945777
rs33945777
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Three beta-thalassemia mutations in the Japanese: IVS-II-1 (G----A), IVS-II-848 (C----G), and codon 90 (GAG----TAG). 1634368 1992
dbSNP: rs33945777
rs33945777
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes. 2446680 1988
dbSNP: rs33945777
rs33945777
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 CausalMutation CLINVAR A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing. 7151176 1982