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: rs1553517274
rs1553517274
SCN3A
1 1.000 2 165090847 missense variant A/G snv 0.800 1.000 1 2018 2018
dbSNP: rs1057518801
rs1057518801
SCN3A
5 0.851 0.080 2 165130238 missense variant A/G snv 0.800 0
dbSNP: rs1057520753
rs1057520753
SCN3A
1 1.000 2 165097493 missense variant G/A snv 0.800 0
dbSNP: rs1170839078
rs1170839078
SCN3A
1 1.000 2 165090758 stop gained T/A;G snv 1.4E-05 0.700 0
dbSNP: rs1312429782
rs1312429782
SCN3A
1 1.000 2 165091229 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0