UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
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: rs121918057
rs121918057 		0.882 0.160 1 45014803 missense variant G/A;T snv 1.2E-05; 8.0E-06
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		Nutritional and Metabolic Diseases 0.010 1.000 1 1986 1986