Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555943503
RPS6KA3
1.000 X 20195156 intron variant T/C snv 2
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 32
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 19
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 17
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 14
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 13
rs121908119
WNT10A ; LOC107984111
0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 10
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 10
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9