Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 18
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv 14
rs587776667
PTEN
0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 14
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 14
rs778139192
KIF7 ; TICRR
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 14
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 14
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv 12