Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 17
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs151344517
LOC107985154 ; AFG3L2 ; TUBB6
0.742 0.320 18 12337505 missense variant C/T snv 31
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 30
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
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
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 21
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 19
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs201518227
TOR1AIP1
1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 13