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: rs137852519
rs137852519
L1CAM
1 1.000 0.200 X 153868034 missense variant C/T snv 0.800 1.000 20 1994 2017
dbSNP: rs137852522
rs137852522
L1CAM
2 0.925 0.200 X 153862856 missense variant G/A snv 0.800 1.000 20 1994 2017
dbSNP: rs137852523
rs137852523
L1CAM
2 0.925 0.200 X 153870948 missense variant A/C snv 0.800 1.000 20 1994 2017
dbSNP: rs137852524
rs137852524
L1CAM
3 0.882 0.200 X 153869818 missense variant C/T snv 0.800 1.000 20 1994 2017
dbSNP: rs28933683
rs28933683
L1CAM
3 0.882 0.200 X 153870854 missense variant G/A;C;T snv 9.3E-05 0.800 1.000 20 1994 2017
dbSNP: rs137852525
rs137852525
L1CAM
3 0.882 0.200 X 153866826 missense variant C/T snv 5.5E-06 0.700 1.000 20 1994 2017
dbSNP: rs367665974
rs367665974
L1CAM
1 1.000 0.200 X 153870122 missense variant C/T snv 5.5E-06 0.700 1.000 20 1994 2017
dbSNP: rs886039408
rs886039408
L1CAM
2 0.925 0.200 X 153868690 missense variant G/A snv 0.700 1.000 20 1994 2017
dbSNP: rs886039409
rs886039409
L1CAM
2 0.925 0.200 X 153867401 missense variant C/T snv 0.700 1.000 20 1994 2017
dbSNP: rs1064794246
rs1064794246
L1CAM
1 1.000 0.200 X 153868662 missense variant A/G snv 0.700 0
dbSNP: rs148516831
rs148516831
L1CAM
1 1.000 0.200 X 153866772 missense variant C/T snv 1.1E-05 2.8E-05 0.700 0
dbSNP: rs879253714
rs879253714
L1CAM
1 1.000 0.200 X 153863517 frameshift variant CA/- del 0.700 0
dbSNP: rs137852520
rs137852520
L1CAM
4 0.851 0.200 X 153868866 missense variant C/T snv 0.010 1.000 1 2019 2019