Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3040
Gene Symbol: HBA2
HBA2 		hemoglobin subunit alpha 2 0.512 0.808 3.1E-03
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		disease 0.800 strong 0.987 7 9 1971 2019
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		disease 0.800 strong 0.985 0 1 1979 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		disease 0.500 None 1.000 0 11 1985 2017