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: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0