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 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05 0.700 1.000 3 2006 2010
Early Infantile Epileptic Encephalopathy 6
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
392 0.882 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05 0.700 1.000 1 2015 2015
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
58 0.882 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05 0.700 1.000 1 2006 2006