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: rs372751467
rs372751467
DOCK6
1 1.000 0.120 19 11217380 stop gained G/A snv 2.8E-05 1.4E-05 0.700 1.000 2 2015 2018
dbSNP: rs1553768038
rs1553768038
ARHGAP31
1 1.000 0.120 3 119414111 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs754138786
rs754138786
DOCK6
1 1.000 0.120 19 11200444 missense variant T/C snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs770364368
rs770364368
DOCK6
1 1.000 0.120 19 11243359 missense variant G/A snv 9.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1559999373
rs1559999373
ARHGAP31
1 1.000 0.120 3 119415187 frameshift variant A/- delins 0.700 0
dbSNP: rs387907031
rs387907031
ARHGAP31
1 1.000 0.120 3 119413976 stop gained C/T snv 0.700 0
dbSNP: rs587777734
rs587777734
NOTCH1
2 0.925 0.120 9 136499229 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs587781259
rs587781259
NOTCH1
2 0.925 0.120 9 136505409 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs587777736
rs587777736
NOTCH1
5 0.882 0.240 9 136517908 missense variant A/G snv 0.010 1.000 1 2014 2014