Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins 18
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv 16
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins 12