rs199422328, ADA

N. diseases: 2
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 0.925 0.160 20 44626597 missense variant C/A snv 8.0E-06 8.4E-05 0.700 1.000 2 1996 1998
Severe combined immunodeficiency due to adenosine deaminase deficiency
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
15 0.925 0.160 20 44626597 missense variant C/A snv 8.0E-06 8.4E-05 0.700 0