Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36015961
rs36015961
HBB
G 0.710 CausalMutation CLINVAR Beta-thalassemia in the Korean population. 12144056

2002
dbSNP: rs36015961
rs36015961
HBB
G 0.710 CausalMutation CLINVAR Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. 8980256

1997
dbSNP: rs36015961
rs36015961
HBB
G 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
dbSNP: rs36015961
rs36015961
HBB
G 0.710 CausalMutation CLINVAR Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients. 8037185

1994
dbSNP: rs36015961
rs36015961
HBB
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