Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1285524167
ABCC8
0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 8
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 6
rs2076101
APOBEC3F
0.925 0.080 22 39049549 missense variant G/A snv 0.52 0.44 3
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs886039802
BBS4
0.851 0.200 15 72712259 stop gained C/T snv 6
rs121434618
BCOR
0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 7
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs1057518759
CDKL5
1.000 0.040 X 18604394 frameshift variant -/GC delins 2
rs1057517718
CLCN7
0.882 0.160 16 1447498 missense variant T/C snv 4
rs730882250
DPH1
0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 5
rs367619008
DPYD
0.925 0.080 1 97828160 missense variant T/C snv 3.2E-05 3.5E-05 3
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs1206736425
FCGR3B
1 161626229 missense variant T/C snv 2
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs1057518800
GRIN2B
12 13567228 missense variant C/T snv 2
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 19
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs80356611
KCNJ11
0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 10
rs80356618
KCNJ11
0.807 0.200 11 17387595 missense variant C/A;T snv 8
rs193929337
KCNJ11
0.827 0.160 11 17387937 missense variant T/C snv 6
rs193929358
KCNJ11
0.851 0.240 11 17387091 missense variant C/T snv 5
rs193929353
KCNJ11
0.882 0.120 11 17387206 missense variant T/C;G snv 4
rs121908332
KCNK9
0.882 0.240 8 139618677 missense variant C/G;T snv 5