rs745594160, APRT

N. diseases: 1
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.
Adenine phosphoribosyltransferase deficiency
CUI: C0268120
Disease: Adenine phosphoribosyltransferase deficiency
11 1.000 0.160 16 88810067 splice donor variant -/A delins 1.1E-04 4.9E-05 0.700 1.000 1 2001 2001