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: rs1553583712
rs1553583712
SCN2A
1.000 2 165354339 frameshift variant GA/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1991 2017
dbSNP: rs1553583712
rs1553583712
SCN2A
1.000 2 165354339 frameshift variant GA/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 34 1991 2017