rs72558417, 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 38403703 missense variant C/G;T snv 6.0E-05 0.800 1.000 21 1988 2017