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: rs879253767
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0