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.
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
58 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.700 1.000 20 2000 2011
Early Infantile Epileptic Encephalopathy 6
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
392 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.700 1.000 5 2003 2013
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2007 2007
Mental disorders
CUI: C0004936
Disease: Mental disorders
149 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2007 2007