Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins 14
rs868064163
ACTL6A
1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 13
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs1568019012
LAMA1
0.790 0.360 18 6985616 stop gained G/A snv 13
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 12
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
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
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins 12
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv 11
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs397515415
HDAC8
0.807 0.240 X 72495216 stop gained G/A;T snv 10
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv 10
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10