rs794727792, STXBP1

N. diseases: 8
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 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 1.000 3 2012 2016
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0
Horizontal Nystagmus
CUI: C0271385
Disease: Horizontal Nystagmus
11 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0