rs550423482, PNPO

N. diseases: 6
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
11 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.800 1.000 5 2005 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.710 1.000 1 2014 2014
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.700 0
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
16 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.700 0
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
12 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2014 2014