HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554917561
rs1554917561
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR The beta- and delta-thalassemia repository (eighth edition). 7558879 1995
dbSNP: rs1554917561
rs1554917561
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR The molecular basis of β-thalassemia. 23637309 2013
dbSNP: rs1554917561
rs1554917561
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations. 19460936 2009
dbSNP: rs1554917561
rs1554917561
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Eight-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta khon kaen) with an inclusion body beta-thalassemia trait. 2070092 1991
dbSNP: rs1554917561
rs1554917561
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: rs1554917561
rs1554917561
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 CausalMutation CLINVAR Problems in determining thalassemia carrier status in a program for prevention and control of severe thalassemia syndromes: a lesson from Thailand. 23525874 2013
dbSNP: rs1554917888
rs1554917888
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0271980
Disease:
beta^0^ Thalassemia 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1554917947
rs1554917947
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554918032
rs1554918032
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0271980
Disease:
beta^0^ Thalassemia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554918165
rs1554918165
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		TC 0.700 GeneticVariation CLINVAR Molecular basis of β-thalassemia in the western province of Saudi Arabia: identification of rare β-thalassemia mutations. 21797702 2011
dbSNP: rs1564874813
rs1564874813
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR Two novel beta-thalassemia alleles in the Chinese: the IVS-II-2 (-T) and nucleotide +8 (C-->T) beta-globin gene mutations. 11186264 2000
dbSNP: rs1564874813
rs1564874813
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR Molecular epidemiology investigation of beta-thalassemia in Zhongshan City, Guangdong Province, People's Republic of China. 20113289 2010
dbSNP: rs1564874813
rs1564874813
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.700 GeneticVariation CLINVAR A melting curve analysis--based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation. 21704277 2011
dbSNP: rs1564875331
rs1564875331
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0221354
Disease:
Frontal bossing 		TGATGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1564875331
rs1564875331
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0002878
Disease:
Anemia, Hemolytic 		TGATGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1564875331
rs1564875331
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019214
Disease:
Hepatosplenomegaly 		TGATGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1564875331
rs1564875331
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		TGATGCC 0.700 CausalMutation CLINVAR
dbSNP: rs1564875707
rs1564875707
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs193922552
rs193922552
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		AT 0.700 GeneticVariation CLINVAR
dbSNP: rs193922553
rs193922553
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C4274391
Disease:
Dominant beta-thalassemia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs193922555
rs193922555
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations. 24828949 2014
dbSNP: rs193922555
rs193922555
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR β -thalassemia intermedia in Northern Iraq: a single center experience. 24719849 2014
dbSNP: rs193922555
rs193922555
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Molecular characterization of beta-thalassemia in Czechoslovakia. 1740317 1992
dbSNP: rs193922555
rs193922555
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: rs193922555
rs193922555
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		G 0.700 CausalMutation CLINVAR Frequency of beta-thalassemia or beta-hemoglobinopathy carriers simultaneously affected with alpha-thalassemia in Iran. 25016698 2014