Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins 8
rs1555321402
FOXG1
0.925 0.240 14 28768345 frameshift variant T/- delins 3
rs201968272
DDX11
0.925 0.160 12 31089147 missense variant G/A snv 3
rs797045036
TRNT1 ; CRBN
0.925 0.160 3 3151023 missense variant A/G snv 2
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 25
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv 7
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs727505397
CASK
0.882 0.240 X 41553782 missense variant C/T snv 3
rs753520553
NAGLU
0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05 10
rs483352897
NAGLU
0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 9
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 10
rs200115000
CAMK2B
1.000 0.160 7 44220165 missense variant C/A;G;T snv 2.6E-04; 5.8E-05 2
rs386834034
POMGNT1 ; TSPAN1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 9
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs869312685
ITPR1
0.807 0.240 3 4815135 missense variant G/A;C snv 11
rs794729668
MED25 ; FUZ
0.925 0.160 19 49818457 missense variant A/G snv 2
rs776291104
MED25
0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 12
rs1223073957
MED25
0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 12
rs730882202
CACNA1G
0.925 0.160 17 50571953 inframe deletion TTC/- delins 4
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6