rs72558408, OTC

N. diseases: 2
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.
Ornithine carbamoyltransferase deficiency
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
142 0.925 0.160 X 38403681 missense variant C/T snv 0.700 1.000 20 1988 2002
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
80 0.925 0.160 X 38403681 missense variant C/T snv 0.010 1.000 1 2001 2001