HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
Disease: alpha-Thalassemia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs33964317
rs33964317 		0.925 0.080 16 176759 missense variant T/A;C;Y snv 1.7E-04 1.4E-05
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1984 1984