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
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv 6
rs1553632357
CTNNB1
0.882 0.120 3 41236421 stop gained G/T snv 5
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs1555307370
SOX5
0.882 0.160 12 23740986 stop gained G/A snv 4
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv 57
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24