CPOX, coproporphyrinogen oxidase, 1371

N. diseases: 246; N. variants: 19
Disease: Hereditary Coproporphyria ×
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: rs28931603
rs28931603 		0.925 0.160 3 98580709 missense variant G/A snv 4.0E-04 2.7E-04
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 10 1994 2006
dbSNP: rs121917868
rs121917868 		0.882 0.160 3 98581474 missense variant T/C snv 4.0E-05 8.4E-05
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 11 1994 2006
dbSNP: rs121917866
rs121917866 		0.925 0.160 3 98585622 missense variant G/A snv 4.0E-06
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 10 1994 2006
dbSNP: rs121917870
rs121917870 		0.925 0.160 3 98588783 missense variant G/A;C snv
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1994 2006
dbSNP: rs121917872
rs121917872 		0.925 0.160 3 98591089 missense variant G/A snv
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1994 2006
dbSNP: rs121917873
rs121917873 		0.925 0.160 3 98585631 missense variant G/A snv 7.0E-06
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1994 2006
dbSNP: rs121917874
rs121917874 		0.925 0.160 3 98588831 missense variant C/G snv
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1994 2006
dbSNP: rs201826432
rs201826432 		1.000 0.160 3 98593101 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1994 2006
dbSNP: rs759347283
rs759347283 		1.000 0.160 3 98591147 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1994 2006
dbSNP: rs1374394802
rs1374394802 		1.000 0.160 3 98591111 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0