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 0.851 0.080 2 166073371 missense variant T/C snv 0.800 1.000 21 2003 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
76 0.851 0.080 2 166073371 missense variant T/C snv 0.700 1.000 3 2007 2012
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
58 0.851 0.080 2 166073371 missense variant T/C snv 0.700 0
Migraine, Familial Hemiplegic, 3
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
14 0.851 0.080 2 166073371 missense variant T/C snv 0.700 0