Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 1.000 20 2009 2019
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C1848207
Disease: Poor speech
Poor speech 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0235081
Disease: Tremor, Limb
Tremor, Limb 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C2674512
Disease: Truncal titubation
Truncal titubation 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0