Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs886041094
UNC80
0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 7
rs61751035
RPS6KC1
0.882 0.160 1 213242186 missense variant G/A snv 2.4E-05 1.4E-05 6
rs185476065
MIR6890 ; QARS1
0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 11
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 8
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 64
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs200473652
UNC80
0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 7
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1172486173
MIR6890 ; QARS1
0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 11
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs1114167297
KIF5B
0.851 0.160 10 32019912 missense variant T/C snv 5
rs1114167298
GRM7
0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 5
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs797045905
ZRANB3 ; RAB3GAP1
0.851 0.360 2 135164629 stop gained T/G snv 5
rs1562846694
ACTL6B ; TFR2
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32