rs863223953, YARS2;DNM1L

N. diseases: 10
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.
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
8 0.776 0.240 12 32731362 missense variant C/T snv 0.800 1.000 7 2007 2018
Abnormality of the endocrine system
CUI: C4025823
Disease: Abnormality of the endocrine system
1 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
Generalized myoclonic seizures
CUI: C4021759
Disease: Generalized myoclonic seizures
8 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
Generalized tonic-clonic seizures with focal onset
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
1 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
Multifocal epileptiform discharges
CUI: C4021219
Disease: Multifocal epileptiform discharges
9 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
Profound intellectual disabilities
CUI: C3161330
Disease: Profound intellectual disabilities
10 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
Seizures, Focal
CUI: C0751495
Disease: Seizures, Focal
15 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
12 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
OPTIC ATROPHY 5 (disorder)
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
4 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 1 2016 2016