rs36015961, HBB

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
0.710 CausalMutation CLINVAR Beta-thalassemia in the Korean population. 12144056 2002
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
0.710 CausalMutation CLINVAR Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. 8980256 1997
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
0.710 CausalMutation CLINVAR We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG-->CCG) at codon 114 resulting in a leucine to proline substitution and designate it beta Durham-NC [beta 114 Leu-->Pro]. 8111050 1994
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
0.710 CausalMutation CLINVAR Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients. 8037185 1994
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
0.710 GeneticVariation BEFREE We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG-->CCG) at codon 114 resulting in a leucine to proline substitution and designate it beta Durham-NC [beta 114 Leu-->Pro]. 8111050 1994
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 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
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 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
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 GeneticVariation UNIPROT Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. 12149194 2002
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 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
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 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
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 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
Beta thalassemia intermedia
CUI: C0472767
Disease: Beta thalassemia intermedia
0.700 CausalMutation CLINVAR