Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 9
rs1135401761
AHDC1
0.925 0.200 1 27548302 stop gained G/A;C snv 2
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv 6
rs730882202
CACNA1G
0.925 0.160 17 50571953 inframe deletion TTC/- delins 4
rs200115000
CAMK2B
1.000 0.160 7 44220165 missense variant C/A;G;T snv 2.6E-04; 5.8E-05 2
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
rs727505397
CASK
0.882 0.240 X 41553782 missense variant C/T snv 3
rs202153551
CDKL5 ; RS1
1.000 0.160 X 18650466 stop gained C/T snv 2.0E-04 6.6E-05 1
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 10
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv 7
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs201968272
DDX11
0.925 0.160 12 31089147 missense variant G/A snv 3
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs387906740
DYNC1H1
0.882 0.200 14 102002546 missense variant G/A snv 3
rs1555321402
FOXG1
0.925 0.240 14 28768345 frameshift variant T/- delins 3
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 13
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv 5
rs869312865
GRIN1 ; LOC105376328
0.827 0.160 9 137156676 missense variant G/A;C snv 5
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins 8
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv 7
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv 7