Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs1555939456
RPS6KA3
0.851 0.200 X 20187956 missense variant T/C snv 21
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 14
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins 6
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv 5
rs738499
TEF ; LOC105373042
0.851 0.120 22 41381096 intron variant G/T snv 0.76 9
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 25
rs1555883505
EEF1A2
0.827 0.160 20 63490712 missense variant G/A snv 10
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs773685207
MED13
0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05 6
rs35275025
PER1
1.000 0.080 17 8141219 missense variant C/G;T snv 4.0E-06 3
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs777323132
CAPN3
0.882 0.240 15 42399616 missense variant C/T snv 4.0E-06; 2.4E-05 7.0E-06 4
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs1555358382
GCH1
14 54844115 stop gained G/A snv 6
rs75184679
RNASEH2B
0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 16
rs9315202 0.925 0.080 13 33067879 downstream gene variant C/T snv 0.24 4