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.
Abnormal corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
10 1.000 15 25354536 missense variant C/T snv 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 1.000 15 25354536 missense variant C/T snv 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 1.000 15 25354536 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 1.000 15 25354536 missense variant C/T snv 0.700 0
Poor speech
CUI: C1848207
Disease: Poor speech
9 1.000 15 25354536 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 15 25354536 missense variant C/T snv 0.700 0