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
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
392 0.827 0.080 2 166052882 stop gained G/A snv 0.700 1.000 9 2001 2015
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
58 0.827 0.080 2 166052882 stop gained G/A snv 0.700 0
Migraine, Familial Hemiplegic, 3
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
14 0.827 0.080 2 166052882 stop gained G/A snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.827 0.080 2 166052882 stop gained G/A snv 0.010 1.000 1 2012 2012
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.827 0.080 2 166052882 stop gained G/A snv 0.010 1.000 1 2012 2012