Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1135401744
KYNU
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 14
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 14
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 13
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs1555528356
ANKRD11
0.790 0.360 16 89282836 stop gained G/A snv 13
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs1555565774
EFTUD2
0.807 0.360 17 44862753 frameshift variant G/- delins 16
rs1554691658
PTCH1
0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 11
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs1553525325
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.807 0.120 2 166002716 missense variant A/T snv 9
rs886039792
TXNDC15
0.807 0.280 5 134874531 splice donor variant G/A snv 9
rs793888541
TFAP2A-AS2 ; TFAP2A
0.807 0.120 6 10404631 missense variant A/T snv 7
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv 17