Gene: HBA2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41464951
rs41464951
HBA2
C 0.700 CausalMutation CLINVAR Alpha-thalassaemia. 20507641

2010
dbSNP: rs41464951
rs41464951
HBA2
C 0.700 CausalMutation CLINVAR Anemia and hydrops in a fetus with homozygous hemoglobin constant spring. 17164653

2006
dbSNP: rs41464951
rs41464951
HBA2
C 0.700 CausalMutation CLINVAR Hemoglobin H disease: not necessarily a benign disorder. 12393486

2003
dbSNP: rs41464951
rs41464951
HBA2
C 0.700 CausalMutation CLINVAR The distribution of the Hb constant spring gene in Southeast Asian populations. 2298455

1990
dbSNP: rs41464951
rs41464951
HBA2
C 0.700 CausalMutation CLINVAR Hematologic and biosynthetic studies in homozygous hemoglobin Constant Spring. 6725554

1984
dbSNP: rs41464951
rs41464951
HBA2
C 0.700 CausalMutation CLINVAR Homozygous haemoglobin Constant Spring: a need for revision of concept. 7327587

1981
dbSNP: rs41464951
rs41464951
HBA2
C 0.700 CausalMutation CLINVAR Haemoglobin Constant Spring--a chain termination mutant? 4944483

1971
dbSNP: rs1057519637
rs1057519637
HBA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs111033601
rs111033601
HBA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs111033603
rs111033603
HBA2
C 0.700 CausalMutation CLINVAR

dbSNP: rs281864819
rs281864819
HBA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs33987053
rs33987053
HBA2
T 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: rs41479844
rs41479844
HBA2
0.010 GeneticVariation BEFREE Molecular basis for alpha-thalassemia associated with the structural mutant hemoglobin Suan-Dok (alpha 2 109leu----arg) 2265255

1990
dbSNP: rs281864810
rs281864810
HBA2
0.010 GeneticVariation BEFREE Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia. 6725558

1984
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