Disease: Autistic Disorder
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs34002892
GNPTAB
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 8
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 6
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv 5
rs1559619762
FOXP1
1.000 0.040 3 70977827 splice donor variant C/G snv 2