Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs1057518777
UBE3A ; SNHG14
15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 2
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs864309508
SNHG14 ; UBE3A
0.925 0.080 15 25356778 frameshift variant CA/- delins 4
rs1057518759
CDKL5
1.000 0.040 X 18604394 frameshift variant -/GC delins 2
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03 20
rs80356616
KCNJ11
0.732 0.360 11 17387917 missense variant C/T snv 19
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 17
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs80356611
KCNJ11
0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 10
rs1285524167
ABCC8
0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 8
rs1554823375
WDR37
0.851 0.160 10 1080454 missense variant C/T snv 8
rs80356618
KCNJ11
0.807 0.200 11 17387595 missense variant C/A;T snv 8
rs121434618
BCOR
0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 7
rs587780455
SCN8A
0.827 0.160 12 51807116 missense variant A/G snv 7