PPOX, protoporphyrinogen oxidase, 5498

N. diseases: 53; N. variants: 28
Disease: Homozygous variegate porphyria ×
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: rs28936676
rs28936676 		0.925 0.160 1 161170467 stop lost A/C snv
CUI: C0342860
Disease: Homozygous variegate porphyria
Homozygous variegate porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs28936677
rs28936677 		1.000 0.160 1 161166882 missense variant T/C snv 2.4E-05 4.9E-05
CUI: C0342860
Disease: Homozygous variegate porphyria
Homozygous variegate porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121918324
rs121918324 		0.925 0.160 1 161167187 missense variant C/T snv
CUI: C0342860
Disease: Homozygous variegate porphyria
Homozygous variegate porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs767419411
rs767419411 		0.882 0.200 1 161168069 missense variant G/A;C snv 1.2E-05; 8.0E-06
CUI: C0342860
Disease: Homozygous variegate porphyria
Homozygous variegate porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000