Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281864817
rs281864817
HBA2
0.010 GeneticVariation BEFREE Haemoglobin Fontainebleau (HBA2: c. 64G>C) in Oman: molecular and haematological characteristics and interaction with various haemoglobinopathies. 28784617

2018
dbSNP: rs33950093
rs33950093
HBB
0.010 GeneticVariation BEFREE Haemoglobin Fontainebleau (HBA2: c. 64G>C) in Oman: molecular and haematological characteristics and interaction with various haemoglobinopathies. 28784617

2018
dbSNP: rs34324664
rs34324664
HBA1
0.010 GeneticVariation BEFREE Haemoglobin Fontainebleau (HBA2: c. 64G>C) in Oman: molecular and haematological characteristics and interaction with various haemoglobinopathies. 28784617

2018
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.010 GeneticVariation BEFREE The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. 17160266

2006
dbSNP: rs35256489
rs35256489
HBB
0.010 GeneticVariation BEFREE The mutation producing this thalassemic hemoglobinopathy is located near to the beta Showa-Yakushiji mutation (beta 110 Leu-->Pro). 8111050

1994
dbSNP: rs281864853
rs281864853
HBA2
0.010 GeneticVariation BEFREE A new silent hemoglobin variant, Hb Ozieri (alpha 71(E20)Ala-->Val), was observed in five apparently unrelated newborn babies during a screening for hemoglobinopathies on the island of Sardinia. 8448185

1993
dbSNP: rs3180281
rs3180281
HBA1
0.010 GeneticVariation BEFREE A new silent hemoglobin variant, Hb Ozieri (alpha 71(E20)Ala-->Val), was observed in five apparently unrelated newborn babies during a screening for hemoglobinopathies on the island of Sardinia. 8448185

1993
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.020 GeneticVariation BEFREE The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. 17160266

2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.020 GeneticVariation BEFREE This excluded C282Y as a factor in the pathogenesis of iron overload in these haemoglobinopathies. 11186424

2000
dbSNP: rs33944208
rs33944208
HBB
A 0.700 CausalMutation CLINVAR Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil. 28366028

2017
dbSNP: rs34856846
rs34856846
HBB
T 0.700 CausalMutation CLINVAR Three novel HBB mutations, c.-140C>G (-90 C>G), c.237_256delGGACAACCTCAAGGGCACCT (FS Cd 78/85 -20 bp), and c.315+2T>G (IVS2:2 T>G). Update of the mutational spectrum of β-Thalassemia in Mexican mestizo patients. 28603845

2017
dbSNP: rs63750513
rs63750513
HBB
G 0.700 CausalMutation CLINVAR Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population. 27828729

2017
dbSNP: rs33933298
rs33933298
HBB
T 0.700 CausalMutation CLINVAR Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey. 27207683

2016
dbSNP: rs33941377
rs33941377
HBB
A 0.700 CausalMutation CLINVAR Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype. 27821015

2016
dbSNP: rs33944208
rs33944208
HBB
A 0.700 CausalMutation CLINVAR The Spectrum of β-Thalassemia Mutations in a Population from the Brazilian Amazon. 26372288

2016
dbSNP: rs33983276
rs33983276
HBB
C 0.700 GeneticVariation CLINVAR Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations. 26635043

2016
dbSNP: rs33922842
rs33922842
HBB
A 0.700 CausalMutation CLINVAR High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. 25089872

2014
dbSNP: rs33944208
rs33944208
HBB
T 0.700 CausalMutation CLINVAR Spectrum of Beta Globin Gene Mutations in Egyptian Children with β-Thalassemia. 25408857

2014
dbSNP: rs35383398
rs35383398
HBB
AC 0.700 CausalMutation CLINVAR High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. 25089872

2014
dbSNP: rs35424040
rs35424040
HBB
A 0.700 CausalMutation CLINVAR Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia. 25332589

2014
dbSNP: rs35456885
rs35456885
HBB
C 0.700 CausalMutation CLINVAR Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations. 24828949

2014
dbSNP: rs35532010
rs35532010
HBB
AG 0.700 CausalMutation CLINVAR High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. 25089872

2014
dbSNP: rs33922842
rs33922842
HBB
A 0.700 CausalMutation CLINVAR Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China. 23383304

2013
dbSNP: rs33941377
rs33941377
HBB
T 0.700 GeneticVariation CLINVAR Genotyping of beta thalassemia trait by high-resolution DNA melting analysis. 24450243

2013
dbSNP: rs33944208
rs33944208
HBB
T 0.700 CausalMutation CLINVAR The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. 23321370

2013