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, 27
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
12 0.925 0.040 12 13608760 missense variant A/C snv 0.800 1.000 3 2014 2017
Epilepsies, Partial
CUI: C0014547
Disease: Epilepsies, Partial
23 0.925 0.040 12 13608760 missense variant A/C snv 0.010 1.000 1 2014 2014
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.925 0.040 12 13608760 missense variant A/C snv 0.010 1.000 1 2014 2014