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: rs17679445
rs17679445
0.925 0.160 17 47944699 missense variant G/A snv 5.5E-02 5.0E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
Nervous System Diseases 0.010 1.000 1 2017 2017