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: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.800 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: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.800 CausalMutation CLINVAR Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations. 17994378 2007
dbSNP: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.800 CausalMutation CLINVAR Neapolis (CD 126 beta+ GGT->GGG): a result of a screening in Campania, a region in Southern Italy. 17606453 2007
dbSNP: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.800 GeneticVariation UNIPROT The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. 15481886 2004
dbSNP: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.800 GeneticVariation UNIPROT Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. 12149194 2002
dbSNP: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.800 GeneticVariation UNIPROT Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia. 12144064 2002
dbSNP: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.800 CausalMutation CLINVAR Compound heterozygosity for Hb Lepore-Boston and Hb Neapolis (Dhonburi) [beta 126(H4)Val-->Gly] in a patient from Naples, Italy. 9028819 1997
dbSNP: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.800 CausalMutation CLINVAR Genetic heterogeneity of beta-thalassemia in southeast Sicily. 7530406 1995
dbSNP: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.800 GeneticVariation UNIPROT Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family. 7693620 1993
dbSNP: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.800 CausalMutation CLINVAR Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia. 1463768 1992
dbSNP: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		C 0.800 CausalMutation CLINVAR Hemoglobin Neapolis, beta 126(H4)Val----Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features. 1954392 1991
dbSNP: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.800 GeneticVariation UNIPROT Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val----Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia. 2399911 1990
dbSNP: rs33925391
rs33925391
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease:
beta Thalassemia 		0.800 GeneticVariation UNIPROT Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys). 6166632 1981