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.
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.882 0.040 2 166002537 stop gained G/A snv 0.700 1.000 2 2002 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.882 0.040 2 166002537 stop gained G/A snv 0.010 1.000 1 2013 2013
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.882 0.040 2 166002537 stop gained G/A snv 0.010 1.000 1 2013 2013