rs121908735, ADA

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 44625581 missense variant G/A snv 1.4E-05 0.800 1.000 14 1984 2016
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.882 0.160 20 44625581 missense variant G/A snv 1.4E-05 0.700 1.000 3 1998 2015
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 44625581 missense variant G/A snv 1.4E-05 0.700 0