UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
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: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 19 1986 2011
dbSNP: rs121918063
rs121918063 		1.000 0.160 1 45013928 missense variant T/G snv 4.0E-06 7.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 10 1989 2001
dbSNP: rs121918064
rs121918064 		1.000 0.160 1 45014017 missense variant C/G;T snv
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 10 1989 2001
dbSNP: rs121918065
rs121918065 		1.000 0.160 1 45014976 missense variant C/A snv 7.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 10 1989 2001
dbSNP: rs121918066
rs121918066 		1.000 0.160 1 45015389 missense variant G/A snv 2.9E-04 2.8E-05
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 10 1989 2001
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: 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: 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: C0162566
Disease: Porphyria Cutanea Tarda
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 19 1986 2011
dbSNP: rs121918059
rs121918059 		0.882 0.160 1 45014835 missense variant C/G;T snv 8.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 10 1986 2011
dbSNP: rs121918060
rs121918060 		0.925 0.160 1 45013187 missense variant C/T snv
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 10 1986 2011
dbSNP: rs121918061
rs121918061 		0.882 0.160 1 45014996 missense variant A/G;T snv 8.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 10 1986 2011
dbSNP: rs1483459837
rs1483459837 		1.000 0.160 1 45014740 missense variant T/C snv 7.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 10 1989 2001
dbSNP: rs36033115
rs36033115 		1.000 0.160 1 45014560 missense variant T/A snv 5.8E-03 5.2E-03
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 10 1989 2001
dbSNP: rs376921379
rs376921379 		1.000 0.160 1 45013316 missense variant G/T snv 1.2E-05 3.5E-05
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 10 1989 2001
dbSNP: rs762617943
rs762617943 		1.000 0.160 1 45013784 missense variant G/A snv 8.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 10 1989 2001
dbSNP: rs763746230
rs763746230 		1.000 0.160 1 45015365 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 10 1989 2001
dbSNP: rs764268015
rs764268015 		1.000 0.160 1 45012960 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 10 1989 2001
dbSNP: rs769378741
rs769378741 		0.925 0.160 1 45013140 missense variant T/A;C snv 8.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 10 1986 2011
dbSNP: rs776907084
rs776907084 		0.925 0.160 1 45013317 missense variant C/G snv 4.0E-06 1.4E-05
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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 10 1986 2011
dbSNP: rs13948
rs13948 		1.000 0.040 1 45015157 non coding transcript exon variant T/C snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: rs2236576
rs2236576 		1.000 0.040 1 45012003 5 prime UTR variant T/A snv 0.24
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs116233118
rs116233118 		1.000 0.160 1 45015346 missense variant G/A;T snv 1.3E-03
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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: rs1182234844
rs1182234844 		1.000 0.160 1 45013742 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0162566
Disease: Porphyria Cutanea Tarda
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