Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064794727
rs1064794727
SCN8A
3 0.882 0.160 12 51807092 missense variant T/C snv 0.700 0
dbSNP: rs1490133991
rs1490133991
SCN8A
1 1.000 12 51688761 stop gained T/A snv 8.0E-06 0.700 0
dbSNP: rs587776703
rs587776703
SCN8A
4 0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 0.700 0
dbSNP: rs886044328
rs886044328
SCN8A
3 0.882 0.160 12 51806363 missense variant G/A snv 0.700 0