rs121918059, UROD

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hepatoerythropoietic Porphyria
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
7 0.882 0.160 1 45014835 missense variant C/G;T snv 8.0E-06 0.710 1.000 1 1992 1992
Porphyria Cutanea Tarda
CUI: C0162566
Disease: Porphyria Cutanea Tarda
39 0.882 0.160 1 45014835 missense variant C/G;T snv 8.0E-06 0.700 1.000 10 1986 2011
Familial porphyria cutanea tarda
CUI: C0268323
Disease: Familial porphyria cutanea tarda
6 0.882 0.160 1 45014835 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 1992 1992