Source: CLINVAR

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: rs869312663
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 1 2017 2017
dbSNP: rs869312663
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.700 1.000 1 2017 2017
dbSNP: rs869312663
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312663
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs869312663
rs869312663
SCN2A
0.882 0.200 2 165381114 missense variant A/G snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0