ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Anemia, Diamond-Blackfan ×
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: rs1568968051
rs1568968051 		1.000 0.080 22 17183874 intron variant T/- del
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587777241
rs587777241 		0.925 0.160 22 17207277 missense variant G/C snv 1.6E-05
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0