rs587776534, ADA

N. diseases: 1
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.
Severe combined immunodeficiency due to adenosine deaminase deficiency
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
12 1.000 0.160 20 44651574 splice donor variant C/G snv 0.700 0