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: rs121918324
rs121918324 		0.925 0.160 1 161167187 missense variant C/T snv
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.880 1.000 25 1996 2013
dbSNP: rs121918323
rs121918323 		1.000 0.160 1 161169070 missense variant G/C snv
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1996 2013
dbSNP: rs121918325
rs121918325 		1.000 0.160 1 161168462 missense variant C/T snv 4.0E-06
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1996 2013
dbSNP: rs121918326
rs121918326 		1.000 0.160 1 161166906 missense variant A/C snv
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 20 1996 2013
dbSNP: rs1361576529
rs1361576529 		1.000 0.160 1 161171039 missense variant G/C snv
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1996 2013
dbSNP: rs141274934
rs141274934 		1.000 0.160 1 161170711 missense variant C/A;G snv 4.0E-06
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1996 2013
dbSNP: rs374936130
rs374936130 		1.000 0.160 1 161170493 missense variant G/A;C snv 8.0E-06
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1996 2013
dbSNP: rs757473753
rs757473753 		1.000 0.160 1 161168492 missense variant C/G snv 4.0E-06 7.0E-06
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1996 2013
dbSNP: rs764352037
rs764352037 		1.000 0.160 1 161167181 missense variant G/A snv 4.0E-06
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1996 2013
dbSNP: rs767419411
rs767419411 		0.882 0.200 1 161168069 missense variant G/A;C snv 1.2E-05; 8.0E-06
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1996 2013
dbSNP: rs769452432
rs769452432 		1.000 0.160 1 161166892 missense variant G/T snv
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1996 2013
dbSNP: rs776530007
rs776530007 		1.000 0.160 1 161170724 missense variant A/C;T snv 4.0E-06; 4.0E-06
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 20 1996 2013
dbSNP: rs1001703993
rs1001703993 		0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1001703993
rs1001703993 		0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1001703993
rs1001703993 		0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121918324
rs121918324 		0.925 0.160 1 161167187 missense variant C/T snv
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
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: rs2301287
rs2301287 		1 161167053 intron variant C/G;T snv 0.37; 2.8E-05
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs746782259
rs746782259 		1.000 0.080 1 161170688 missense variant T/A snv 4.0E-06
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs761875612
rs761875612 		1.000 0.040 1 161175160 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs767419411
rs767419411 		0.882 0.200 1 161168069 missense variant G/A;C snv 1.2E-05; 8.0E-06
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
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
dbSNP: rs1057518798
rs1057518798 		1.000 0.120 1 161170939 stop gained G/A snv
CUI: C0232488
Disease: Abdominal colic
Abdominal colic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1057518798
rs1057518798 		1.000 0.120 1 161170939 stop gained G/A snv
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs1057518798
rs1057518798 		1.000 0.120 1 161170939 stop gained G/A snv
CUI: C0151861
Disease: Porphyruria
Porphyruria 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0