rs72554306, OTC

N. diseases: 1
Source: UNIPROT ×
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.
Ornithine carbamoyltransferase deficiency
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
107 1.000 0.120 X 38367328 missense variant G/T snv 0.700 1.000 20 1988 2002