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.
Early Infantile Epileptic Encephalopathy 6
392 0.851 0.040 2 166058651 missense variant C/A;T snv 0.800 1.000 25 2003 2017
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.851 0.040 2 166058651 missense variant C/A;T snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.851 0.040 2 166058651 missense variant C/A;T snv 0.010 1.000 1 2015 2015
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.851 0.040 2 166058651 missense variant C/A;T snv 0.010 1.000 1 2015 2015