rs121908012, UROS

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.
Porphyria, Erythropoietic
CUI: C0162530
Disease: Porphyria, Erythropoietic
26 0.882 0.160 10 125815061 missense variant A/C;G snv 4.0E-06; 2.1E-04 0.870 0.950 20 1990 2014
Deficiency of Uroporphyrinogen III Synthase
2 0.882 0.160 10 125815061 missense variant A/C;G snv 4.0E-06; 2.1E-04 0.010 1.000 1 2013 2013
Microcytic hypochromic anemia (disorder)
3 0.882 0.160 10 125815061 missense variant A/C;G snv 4.0E-06; 2.1E-04 0.010 1.000 1 2011 2011