rs1555844617, 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 44625650 frameshift variant -/T delins 0.700 1.000 1 2011 2011
Severe Combined Immunodeficiency
CUI: C0085110
Disease: Severe Combined Immunodeficiency
46 0.925 0.120 20 44625650 frameshift variant -/T delins 0.700 1.000 1 2011 2011