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 0.882 0.040 2 166002588 missense variant C/G;T snv 0.800 1.000 22 2003 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.040 2 166002588 missense variant C/G;T snv 0.010 1.000 1 2011 2011
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
36 0.882 0.040 2 166002588 missense variant C/G;T snv 0.010 1.000 1 2011 2011