rs387906686, SCN2A

N. diseases: 23
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, 11
65 0.742 0.320 2 165310413 missense variant C/A;T snv 0.800 1.000 20 2009 2019
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
17 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Dyskinesias, Paroxysmal
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
3 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Dystonia, Paroxysmal
CUI: C0393588
Disease: Dystonia, Paroxysmal
4 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Episodic Ataxia
CUI: C1720189
Disease: Episodic Ataxia
9 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Poor speech
CUI: C1848207
Disease: Poor speech
9 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Primary Caesarian section
CUI: C4072903
Disease: Primary Caesarian section
15 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Recurrent upper respiratory tract infection
3 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
46 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Tremor, Limb
CUI: C0235081
Disease: Tremor, Limb
3 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
Truncal titubation
CUI: C2674512
Disease: Truncal titubation
2 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0