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: rs1555228665
rs1555228665
SCN8A
0.882 0.080 12 51788702 missense variant T/C snv
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.700 0