rs121908721, ADA;PKIG

N. diseases: 3
Source: ALL
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 0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05 0.800 1.000 15 1984 2015
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05 0.710 1.000 1 2019 2019
Severe combined immunodeficiency due to adenosine deaminase deficiency
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
15 0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05 0.700 0