CPOX, coproporphyrinogen oxidase, 1371

N. diseases: 246; N. variants: 19
Disease: Harderoporphyria ×
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: rs121917868
rs121917868 		0.882 0.160 3 98581474 missense variant T/C snv 4.0E-05 8.4E-05
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.730 1.000 3 1998 2013
dbSNP: rs587777271
rs587777271 		1.000 0.160 3 98585633 missense variant T/C snv
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 2011 2011
dbSNP: rs370245685
rs370245685 		1.000 0.160 3 98581404 splice region variant T/C snv 2.8E-05 2.1E-05
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1339270733
rs1339270733 		1.000 0.160 3 98581483 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2001 2001