Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052676
KCNQ3
0.807 0.200 8 132180246 missense variant G/A snv 10
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs782609482
SURF1
1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 4
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs1057516031
MTM1
1.000 0.080 X 150598681 stop gained G/T snv 3
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv 14
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv 4
rs778899140
PDE10A
0.925 6 165450268 missense variant T/C snv 4.0E-06 5
rs1553525325
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.807 0.120 2 166002716 missense variant A/T snv 9
rs786205645
NEK1
0.827 0.160 4 169508827 frameshift variant TA/- delins 9
rs763028380
ABCC8
0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 12
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 25
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7