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 1.000 0.040 2 165994176 missense variant C/A snv 0.800 1.000 21 2003 2017
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 1.000 0.040 2 165994176 missense variant C/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.040 2 165994176 missense variant C/A snv 0.700 0