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.
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.040 20 49374625 missense variant C/T snv 0.700 0