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 0.851 0.080 2 166037930 missense variant C/G;T snv 0.700 1.000 8 2002 2017
Early Infantile Epileptic Encephalopathy 6
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
392 0.851 0.080 2 166037930 missense variant C/G;T snv 0.700 1.000 4 2011 2015
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 166037930 missense variant C/G;T snv 0.700 0
Migraine, Familial Hemiplegic, 3
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
14 0.851 0.080 2 166037930 missense variant C/G;T snv 0.700 0