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, 26
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
13 0.882 0.040 20 49374931 missense variant G/A;C snv 0.700 1.000 3 2017 2017
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.040 20 49374931 missense variant G/A;C snv 0.700 1.000 2 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.040 20 49374931 missense variant G/A;C snv 0.700 1.000 2 2017 2017
Low CSF 5-methyltetrahydrofolate
CUI: C4022901
Disease: Low CSF 5-methyltetrahydrofolate
1 0.882 0.040 20 49374931 missense variant G/A;C snv 0.700 1.000 2 2017 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.040 20 49374931 missense variant G/A;C snv 0.700 1.000 2 2017 2017
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.882 0.040 20 49374931 missense variant G/A;C snv 0.700 0