ADA, adenosine deaminase, 100

N. diseases: 379; N. variants: 61
Disease: Adenosine deaminase deficiency ×
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: rs121908726
rs121908726 		0.851 0.160 20 44626570 missense variant G/C;T snv 4.0E-06
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121908727
rs121908727 		0.851 0.160 20 44624272 missense variant G/T snv 1.2E-05
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 1995 1995