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
392 0.882 0.160 2 166013812 stop gained G/A snv 0.700 1.000 3 2003 2015
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.882 0.160 2 166013812 stop gained G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 2 166013812 stop gained G/A snv 0.700 0
Speech Delay
CUI: C0241210
Disease: Speech Delay
11 0.882 0.160 2 166013812 stop gained G/A snv 0.700 0