rs121908723, PKIG;ADA

N. diseases: 2
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
SCID Due to ADA Deficiency, Early-Onset
CUI: C1863236
Disease: SCID Due to ADA Deficiency, Early-Onset
50 0.851 0.240 20 44623039 missense variant C/T snv 1.2E-05 5.6E-05 0.800 1.000 18 1984 2016
Severe combined immunodeficiency due to adenosine deaminase deficiency
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
12 0.851 0.240 20 44623039 missense variant C/T snv 1.2E-05 5.6E-05 0.700 0