PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 60; N. variants: 12
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs550423482
rs550423482
0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014