rs780014431, 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 0.120 20 44625623 stop gained G/A snv 2.0E-05 7.0E-06 0.700 1.000 5 1995 2015
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.925 0.120 20 44625623 stop gained G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 1995 1995