UROS, uroporphyrinogen III synthase, 7390

N. diseases: 58; N. variants: 25
Disease: Disorders of Porphyrin Metabolism ×
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: rs121908015
rs121908015 		1.000 0.120 10 125816490 missense variant G/A snv 2.4E-05 2.8E-05
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019