UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
Disease: Familial porphyria cutanea tarda ×
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: rs121918057
rs121918057 		0.882 0.160 1 45014803 missense variant G/A;T snv 1.2E-05; 8.0E-06
CUI: C0268323
Disease: Familial porphyria cutanea tarda
Familial porphyria cutanea tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.730 1.000 3 1995 2013
dbSNP: rs143823335
rs143823335 		1.000 0.160 1 45014012 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0268323
Disease: Familial porphyria cutanea tarda
Familial porphyria cutanea tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2009 2009
dbSNP: rs145195562
rs145195562 		0.925 0.160 1 45014071 splice donor variant G/C snv 2.8E-05; 4.0E-06
CUI: C0268323
Disease: Familial porphyria cutanea tarda
Familial porphyria cutanea tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121918059
rs121918059 		0.882 0.160 1 45014835 missense variant C/G;T snv 8.0E-06
CUI: C0268323
Disease: Familial porphyria cutanea tarda
Familial porphyria cutanea tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 1992 1992