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: 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: 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