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: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study. 28643346 2017
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study. 25525381 2014
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology. 24086942 2013
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Molecular study and genotype/phenotype correlation of β Thalassemia in Malaysia. 22335963 2012
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Molecular basis of β-thalassemia in the western province of Saudi Arabia: identification of rare β-thalassemia mutations. 21797702 2011
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis. 19429541 2009
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Rapid identification of HBB gene mutations by high-resolution melting analysis. 19631632 2009
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis. 19429541 2009
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. 18294253 2008
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations. 18694524 2008
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR A mutation of the beta-globin gene initiation codon, ATG-->AAG, found in a French Caucasian man. 16114187 2005
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. 14715623 2004
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC. 12955718 2003
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing. 12368169 2002
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean. 10815781 2000
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR Historical note: the beta-thalassemia allele in the noble Russian family Lermontov is identified as the ATG-->ACG change in the initiation codon. 9629504 1998
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR beta-thalassemia mutations in Japanese and Koreans. 9101288 1997
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		T 0.700 GeneticVariation CLINVAR De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy. 9371531 1997
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR beta-thalassemia mutations in Japanese and Koreans. 9101288 1997
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR De novo initiation codon mutation (ATG-->ACG) of the beta-globin gene causing beta-thalassemia in a Swiss family. 8094943 1993
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR A beta-thalassemia mutation found in Korea. 1517111 1992
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR A new single nucleotide change at the initiation codon (ATG----AGG) identified in amplified genomic DNA of a Chinese beta-thalassemic patient. 2306523 1990
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 GeneticVariation CLINVAR An initiation codon mutation as a cause of a beta-thalassemia. 2272840 1990
dbSNP: rs33941849
rs33941849
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR