rs761242509, ADA

N. diseases: 2
Source: CURATED ×
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 44625568 splice donor variant C/T snv 2.1E-05 2.8E-05 0.700 1.000 2 1995 2012
Severe combined immunodeficiency due to adenosine deaminase deficiency
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
12 0.925 0.160 20 44625568 splice donor variant C/T snv 2.1E-05 2.8E-05 0.700 0