rs41464951, HBA2

N. diseases: 2
Disease: alpha-Thalassemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
alpha-Thalassemia
CUI: C0002312
Disease: alpha-Thalassemia
0.700 CausalMutation CLINVAR Alpha-thalassaemia. 20507641 2010
alpha-Thalassemia
CUI: C0002312
Disease: alpha-Thalassemia
0.700 CausalMutation CLINVAR Anemia and hydrops in a fetus with homozygous hemoglobin constant spring. 17164653 2006
alpha-Thalassemia
CUI: C0002312
Disease: alpha-Thalassemia
0.700 CausalMutation CLINVAR Hemoglobin H disease: not necessarily a benign disorder. 12393486 2003
alpha-Thalassemia
CUI: C0002312
Disease: alpha-Thalassemia
0.700 CausalMutation CLINVAR The distribution of the Hb constant spring gene in Southeast Asian populations. 2298455 1990
alpha-Thalassemia
CUI: C0002312
Disease: alpha-Thalassemia
0.700 CausalMutation CLINVAR Hematologic and biosynthetic studies in homozygous hemoglobin Constant Spring. 6725554 1984
alpha-Thalassemia
CUI: C0002312
Disease: alpha-Thalassemia
0.700 CausalMutation CLINVAR Homozygous haemoglobin Constant Spring: a need for revision of concept. 7327587 1981
alpha-Thalassemia
CUI: C0002312
Disease: alpha-Thalassemia
0.700 CausalMutation CLINVAR Haemoglobin Constant Spring--a chain termination mutant? 4944483 1971