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: rs587776908
rs587776908
NSUN2 ; LINC01018
1 1.000 0.160 5 6600195 missense variant C/T snv 1.2E-05 0.800 1.000 2 2012 2012
dbSNP: rs1131692154
rs1131692154
SYNGAP1
6 0.925 0.160 6 33432700 stop gained C/T snv 0.700 0
dbSNP: rs1560982564
rs1560982564
NSUN2
1 1.000 0.160 5 6622101 splice acceptor variant C/G snv 0.700 0
dbSNP: rs387907190
rs387907190
NSUN2
1 1.000 0.160 5 6620242 stop gained G/A snv 0.700 0
dbSNP: rs387907191
rs387907191
NSUN2
1 1.000 0.160 5 6611067 stop gained G/A snv 0.700 0