Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519637
rs1057519637
HBA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060339
rs1060339
HBA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs111033601
rs111033601
HBA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs111033603
rs111033603
HBA2
C 0.700 CausalMutation CLINVAR

dbSNP: rs11549407
rs11549407
HBB
A 0.700 CausalMutation CLINVAR

dbSNP: rs281864819
rs281864819
HBA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs33915217
rs33915217
HBB
G 0.700 CausalMutation CLINVAR

dbSNP: rs33941377
rs33941377
HBB
T 0.700 CausalMutation CLINVAR

dbSNP: rs33944208
rs33944208
HBB
T 0.700 GeneticVariation CLINVAR

dbSNP: rs33945777
rs33945777
HBB
T 0.700 CausalMutation CLINVAR

dbSNP: rs33971440
rs33971440
HBB
T 0.700 CausalMutation CLINVAR

dbSNP: rs33986703
rs33986703
HBB
A 0.700 CausalMutation CLINVAR

dbSNP: rs33987053
rs33987053
HBA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs34598529
rs34598529
HBB
C 0.700 CausalMutation CLINVAR

dbSNP: rs34690599
rs34690599
HBB
C 0.700 CausalMutation CLINVAR

dbSNP: rs35004220
rs35004220
HBB
T 0.700 CausalMutation CLINVAR

dbSNP: rs35724775
rs35724775
HBB
G 0.700 CausalMutation CLINVAR

dbSNP: rs41397847
rs41397847
HBA2
C 0.700 CausalMutation CLINVAR

dbSNP: rs41474145
rs41474145
HBA2
A 0.700 CausalMutation CLINVAR

dbSNP: rs63751269
rs63751269
HBA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs281864855
rs281864855
HBA2
0.010 GeneticVariation BEFREE Hybridization patterns of DNA restriction enzyme fragments showed that in HbQ-alpha 2 74 Asp replaced by His beta 2-alpha-thalassemia one chromosome has both alpha-globin genes deleted and the other chromosome, which carries the alpha-mutant gene, has one alpha-globin gene deleted. 508945

1979
dbSNP: rs28928875
rs28928875
HBA1
0.010 GeneticVariation BEFREE Hybridization patterns of DNA restriction enzyme fragments showed that in HbQ-alpha 2 74 Asp replaced by His beta 2-alpha-thalassemia one chromosome has both alpha-globin genes deleted and the other chromosome, which carries the alpha-mutant gene, has one alpha-globin gene deleted. 508945

1979
dbSNP: rs33925391
rs33925391
HBB
0.010 GeneticVariation BEFREE 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: rs35802118
rs35802118
HBB
0.010 GeneticVariation BEFREE 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: rs63750022
rs63750022
HBB
0.010 GeneticVariation BEFREE 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