UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
Disease: Hepatoerythropoietic 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: rs121918057
rs121918057 		0.882 0.160 1 45014803 missense variant G/A;T snv 1.2E-05; 8.0E-06
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria 		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 2011
dbSNP: rs121918059
rs121918059 		0.882 0.160 1 45014835 missense variant C/G;T snv 8.0E-06
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 1992 1992
dbSNP: rs121918058
rs121918058 		0.925 0.160 1 45013933 missense variant G/A snv
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121918060
rs121918060 		0.925 0.160 1 45013187 missense variant C/T snv
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121918061
rs121918061 		0.882 0.160 1 45014996 missense variant A/G;T snv 8.0E-06
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs769378741
rs769378741 		0.925 0.160 1 45013140 missense variant T/A;C snv 8.0E-06
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic 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 2004 2004
dbSNP: rs776907084
rs776907084 		0.925 0.160 1 45013317 missense variant C/G snv 4.0E-06 1.4E-05
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic 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