Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs886039812
DYNC2H1
0.882 0.160 11 103155395 missense variant T/G snv 7
rs879253887
IGHMBP2
0.925 0.120 11 68934542 missense variant C/T snv 4.1E-06 6
rs878855331
TPP1
0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins 5
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs878853163
SATB2
0.925 0.200 2 199323850 stop gained T/A;C snv 4
rs875989777
CTSA
0.851 0.320 20 45894704 frameshift variant AT/- delins 9
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv 5
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv 5
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv 4
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv 10
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs797046136
EBF3 ; LOC105378558
10 129848391 splice donor variant C/A snv 1
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs786205645
NEK1
0.827 0.160 4 169508827 frameshift variant TA/- delins 9