rs796053353, STXBP1

N. diseases: 6
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.
Epileptic Encephalopathy, Early Infantile, 4
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
37 0.882 0.120 9 127661192 missense variant C/T snv 0.700 1.000 2 2014 2015
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 9 127661192 missense variant C/T snv 0.700 0
Infantile encephalopathy
CUI: C1856408
Disease: Infantile encephalopathy
9 0.882 0.120 9 127661192 missense variant C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.120 9 127661192 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.120 9 127661192 missense variant C/T snv 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.882 0.120 9 127661192 missense variant C/T snv 0.700 0