UROS, uroporphyrinogen III synthase, 7390

N. diseases: 58; N. variants: 25
Disease: Deficiency of Uroporphyrinogen III Synthase ×
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: C2718078
Disease: Deficiency of Uroporphyrinogen III Synthase
Deficiency of Uroporphyrinogen III Synthase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121908021
rs121908021 		0.925 0.120 10 125788923 missense variant G/T snv
CUI: C2718078
Disease: Deficiency of Uroporphyrinogen III Synthase
Deficiency of Uroporphyrinogen III Synthase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013