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.
Underdeveloped nasal alae
CUI: C1834055
Disease: Underdeveloped nasal alae
8 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
105 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Respiratory distress
CUI: C0476273
Disease: Respiratory distress
16 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
No social interaction
CUI: C1849683
Disease: No social interaction
3 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Neck muscle weakness
CUI: C0240479
Disease: Neck muscle weakness
1 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 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
Hypoxemia
CUI: C0700292
Disease: Hypoxemia
7 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
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
Gingival Overgrowth
CUI: C0376480
Disease: Gingival Overgrowth
5 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
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 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
Full cheeks
CUI: C1866231
Disease: Full cheeks
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
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
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 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