Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv 14
rs121913294
PTEN
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 14
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs1555649483
BPTF
0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 12
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs387906271
CHD7
0.790 0.320 8 60801598 splice region variant G/C snv 11
rs786204858
PTEN
0.776 0.280 10 87933079 missense variant A/G;T snv 11
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv 10
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs1085308046
PTEN
0.790 0.240 10 87933160 missense variant T/C;G snv 9
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9