HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
Disease: Alpha trait 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: rs587776826
rs587776826 		1.000 0.080 16 173147 frameshift variant ACCAAGA/TACTTC delins
CUI: C0472762
Disease: Alpha trait thalassemia
Alpha trait thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs41341344
rs41341344 		0.925 0.080 16 173001 missense variant T/C snv
CUI: C0472762
Disease: Alpha trait thalassemia
Alpha trait thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1993 1993