UROS, uroporphyrinogen III synthase, 7390

N. diseases: 58; N. variants: 25
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: rs121908012
rs121908012 		0.882 0.160 10 125815061 missense variant A/C;G snv 4.0E-06; 2.1E-04
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.870 0.950 20 1990 2014
dbSNP: rs121908020
rs121908020 		1.000 0.120 10 125788993 missense variant C/T snv 3.7E-05 6.3E-05
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 15 1990 2012
dbSNP: rs121908021
rs121908021 		0.925 0.120 10 125788923 missense variant G/T snv
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 15 1990 2013
dbSNP: rs121908013
rs121908013 		1.000 0.120 10 125815120 missense variant G/A snv
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 14 1990 2012
dbSNP: rs121908014
rs121908014 		1.000 0.120 10 125788983 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 14 1990 2012
dbSNP: rs121908015
rs121908015 		1.000 0.120 10 125816490 missense variant G/A snv 2.4E-05 2.8E-05
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 14 1990 2012
dbSNP: rs121908017
rs121908017 		1.000 0.120 10 125794978 missense variant C/A;T snv 4.0E-06
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 14 1990 2012
dbSNP: rs28941774
rs28941774 		1.000 0.120 10 125815081 missense variant G/A snv
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 14 1990 2012
dbSNP: rs28941775
rs28941775 		1.000 0.120 10 125815094 missense variant T/C snv 8.0E-06
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 14 1990 2012
dbSNP: rs397515527
rs397515527 		1.000 0.120 10 125816185 missense variant A/G snv
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 14 1990 2012
dbSNP: rs397515528
rs397515528 		1.000 0.120 10 125812222 missense variant G/A snv
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 14 1990 2012
dbSNP: rs121908016
rs121908016 		1.000 0.120 10 125815034 missense variant C/A snv 1.2E-05 1.4E-05
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 14 1990 2012
dbSNP: rs139388833
rs139388833 		1.000 0.120 10 125794906 missense variant A/G snv 4.0E-06
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 14 1990 2012
dbSNP: rs777433697
rs777433697 		1.000 0.120 10 125788956 missense variant A/G snv 8.2E-06 7.0E-06
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 14 1990 2012
dbSNP: rs10901450
rs10901450 		10 125820725 intron variant G/C snv 0.41
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2027515
rs2027515 		10 125807263 3 prime UTR variant T/C snv 0.72
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121908018
rs121908018 		1.000 0.120 10 125815035 missense variant T/A snv
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs373864821
rs373864821 		1.000 0.120 10 125816436 splice donor variant C/T snv 2.4E-05 5.6E-05
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397515348
rs397515348 		1.000 0.120 10 125816702 intron variant A/G snv
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397515349
rs397515349 		1.000 0.120 10 125816708 intron variant C/T snv
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397515350
rs397515350 		1.000 0.120 10 125816718 intron variant G/T snv 1.4E-05
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397515351
rs397515351 		1.000 0.120 10 125816722 intron variant G/T snv
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs767029901
rs767029901 		1.000 0.120 10 125794884 missense variant A/C snv 4.0E-06
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs773301339
rs773301339 		1.000 0.120 10 125816493 missense variant C/A snv 8.0E-06
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs796051859
rs796051859 		1.000 0.120 10 125798142 splice acceptor variant -/C delins
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0