PPOX, protoporphyrinogen oxidase, 5498

N. diseases: 53; N. variants: 28
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: rs148292941
rs148292941
1 161171095 stop gained T/C;G snv 8.0E-06 6.3E-05
CUI: C0522153
Disease: Urine Discoloration
Urine Discoloration
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0