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: rs137852521
rs137852521
L1CAM
2 0.925 0.080 X 153870933 missense variant C/T snv 0.810 1.000 21 1993 2013
dbSNP: rs137852518
rs137852518
L1CAM
1 1.000 0.080 X 153870403 missense variant C/T snv 0.800 1.000 20 1993 2013
dbSNP: rs137852520
rs137852520
L1CAM
4 0.851 0.200 X 153868866 missense variant C/T snv 0.800 1.000 20 1993 2013
dbSNP: rs137852522
rs137852522
L1CAM
2 0.925 0.200 X 153862856 missense variant G/A snv 0.800 1.000 20 1993 2013
dbSNP: rs137852526
rs137852526
L1CAM
2 0.925 0.120 X 153870475 missense variant G/A snv 0.800 1.000 20 1993 2013
dbSNP: rs797044787
rs797044787
L1CAM
4 0.851 0.240 X 153870123 synonymous variant G/A snv 0.720 1.000 2 1998 2014
dbSNP: rs137852523
rs137852523
L1CAM
2 0.925 0.200 X 153870948 missense variant A/C snv 0.700 1.000 20 1993 2013
dbSNP: rs137852524
rs137852524
L1CAM
3 0.882 0.200 X 153869818 missense variant C/T snv 0.700 1.000 20 1993 2013
dbSNP: rs137852525
rs137852525
L1CAM
3 0.882 0.200 X 153866826 missense variant C/T snv 5.5E-06 0.700 1.000 20 1993 2013
dbSNP: rs797045674
rs797045674
L1CAM
1 1.000 0.080 X 153866729 missense variant T/C snv 0.700 1.000 20 1993 2013
dbSNP: rs886039408
rs886039408
L1CAM
2 0.925 0.200 X 153868690 missense variant G/A snv 0.700 1.000 20 1993 2013
dbSNP: rs886039409
rs886039409
L1CAM
2 0.925 0.200 X 153867401 missense variant C/T snv 0.700 1.000 20 1993 2013
dbSNP: rs1375788131
rs1375788131
L1CAM
1 1.000 0.080 X 153867530 missense variant T/C snv 0.700 0
dbSNP: rs797045673
rs797045673
L1CAM
2 0.925 0.120 X 153866802 stop gained G/A snv 0.700 0
dbSNP: rs875989884
rs875989884
L1CAM
1 1.000 0.080 X 153866700 stop gained G/A snv 0.700 0
dbSNP: rs879253713
rs879253713
L1CAM
1 1.000 0.080 X 153865838 non coding transcript exon variant T/G snv 0.700 0
dbSNP: rs879253724
rs879253724
L1CAM
1 1.000 0.080 X 153863550 splice acceptor variant C/G snv 0.700 0
dbSNP: rs886041102
rs886041102
L1CAM
1 1.000 0.080 X 153868390 missense variant A/C snv 0.700 0
dbSNP: rs36021462
rs36021462
L1CAM
1 1.000 0.080 X 153866778 missense variant C/T snv 2.1E-03 1.8E-03 0.020 1.000 2 1997 2012
dbSNP: rs530514393
rs530514393
FN1
1 1.000 0.080 2 215408367 missense variant T/A;C snv 2.2E-04; 4.0E-06 0.020 1.000 2 1997 2012
dbSNP: rs80101897
rs80101897
FN1
1 1.000 0.080 2 215399334 missense variant T/C snv 4.0E-06 2.1E-05 0.020 1.000 2 1997 2012
dbSNP: rs104886303
rs104886303
COL4A5
4 0.851 0.200 X 108695409 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs28933683
rs28933683
L1CAM
3 0.882 0.200 X 153870854 missense variant G/A;C;T snv 9.3E-05 0.010 1.000 1 1996 1996
dbSNP: rs78972735
rs78972735
COL4A5
3 0.882 0.200 X 108622766 missense variant G/T snv 3.6E-03 1.3E-03 0.010 1.000 1 2020 2020