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

2010

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

2006

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

2003

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

1990

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

1984

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

1981

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

1971

dbSNP: rs1057519637
rs1057519637
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060339
rs1060339
A 0.700 CausalMutation CLINVAR

dbSNP: rs111033601
rs111033601
G 0.700 CausalMutation CLINVAR

dbSNP: rs111033603
rs111033603
C 0.700 CausalMutation CLINVAR

dbSNP: rs11549407
rs11549407
HBB
A 0.700 CausalMutation CLINVAR

dbSNP: rs281864819
rs281864819
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
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
C 0.700 CausalMutation CLINVAR