Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 5
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs1397094538
ZNF436-AS1 ; ZNF436
0.925 0.120 1 23367044 missense variant A/T snv 4.0E-06 3
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs121908681
PLA2G6
0.851 0.160 22 38120867 missense variant T/C;G snv 2.4E-05 7
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv 11
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins 12
rs1057516945
TPP1
0.925 0.160 11 6616973 splice donor variant A/C snv 2
rs553522118
TPP1
0.882 0.160 11 6617338 stop gained G/A;T snv 5
rs1564855725
TPP1
0.882 0.160 11 6617621 splice region variant C/T snv 5
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs751486476
CLN6
0.925 0.160 15 68218549 missense variant C/T snv 4.0E-06 2
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19