rs878853250, SCN8A

N. diseases: 37
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.
Abnormality of the tonsils
CUI: C4021975
Disease: Abnormality of the tonsils
1 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Action Tremor
CUI: C0234376
Disease: Action Tremor
2 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Appendicular hypotonia
CUI: C4022919
Disease: Appendicular hypotonia
8 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
CUI: C4692845
Disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
2 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Broad forehead
CUI: C1849089
Disease: Broad forehead
13 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Bulbar palsy
CUI: C4082299
Disease: Bulbar palsy
5 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Developmental stagnation at onset of seizures
CUI: C1836829
Disease: Developmental stagnation at onset of seizures
2 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Exaggerated startle response
CUI: C1740801
Disease: Exaggerated startle response
4 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
12 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Full cheeks
CUI: C1866231
Disease: Full cheeks
4 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Generalized tonic seizures
CUI: C1836508
Disease: Generalized tonic seizures
3 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Gingival Overgrowth
CUI: C0376480
Disease: Gingival Overgrowth
5 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Hypoxemia
CUI: C0700292
Disease: Hypoxemia
7 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Infantile axial hypotonia
CUI: C3806604
Disease: Infantile axial hypotonia
8 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0