rs104894629, PNPO

N. diseases: 2
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.
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
CUI: C1864723
Disease: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
11 0.925 0.160 17 47946681 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 3 2005 2017
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.925 0.160 17 47946681 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2009 2009