Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518759
CDKL5
1.000 0.040 X 18604394 frameshift variant -/GC delins 2
rs1057518777
UBE3A ; SNHG14
15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 2
rs142375870
MAG
0.925 0.080 19 35302594 missense variant A/C snv 2.3E-04 2.2E-04 3
rs121913105
FGFR3
0.653 0.600 4 1806163 missense variant A/C;T snv 30
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 16
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 15
rs587780455
SCN8A
0.827 0.160 12 51807116 missense variant A/G snv 7
rs80356730
TARDBP
0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 7
rs1057518801
SCN3A
0.851 0.080 2 165130238 missense variant A/G snv 5
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs869320624
EMC1-AS1 ; EMC1
0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs80356611
KCNJ11
0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06 10
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 32
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 25
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs80356624
KCNJ11
0.752 0.240 11 17387490 missense variant C/A;T snv 16
rs80356618
KCNJ11
0.807 0.200 11 17387595 missense variant C/A;T snv 8
rs104894421
LIG4
0.882 0.200 13 108210436 missense variant C/A;T snv 1.2E-05 4
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 41
rs587777585
VARS2
0.882 6 30918851 missense variant C/G;T snv 2.4E-05 6
rs121908332
KCNK9
0.882 0.240 8 139618677 missense variant C/G;T snv 5
rs200345816
SH2B2 ; CUX1
0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06 3
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25