ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
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: rs770689762
rs770689762
1.000 0.120 22 17182696 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C0282492
Disease: Sneddon Syndrome
Sneddon Syndrome
Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs775440641
rs775440641
0.925 0.120 22 17188342 missense variant T/C snv 8.0E-06
CUI: C0282492
Disease: Sneddon Syndrome
Sneddon Syndrome
Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0