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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
CUI: C3809606
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
13 0.827 0.040 16 56192353 missense variant G/A;C;T snv 0.700 1.000 5 2013 2017
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
CUI: C4479569
Disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
10 0.827 0.040 16 56192353 missense variant G/A;C;T snv 0.700 1.000 5 2016 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
76 0.827 0.040 16 56192353 missense variant G/A;C;T snv 0.700 1.000 3 2015 2018
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.827 0.040 16 56192353 missense variant G/A;C;T snv 0.700 0
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.827 0.040 16 56192353 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
Neonatal encephalopathy
CUI: C0235820
Disease: Neonatal encephalopathy
10 0.827 0.040 16 56192353 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.040 16 56192353 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018