Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv 7
rs1557036757
HUWE1
0.925 0.240 X 53647375 missense variant G/A snv 7
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv 6
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv 6
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
rs797045140
IQSEC2
0.827 0.200 X 53238308 splice region variant TG/- delins 6
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv 6
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv 5
rs1557006903
HUWE1
0.851 0.280 X 53615815 missense variant C/T snv 5
rs369691608
ZNF142 ; BCS1L
1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 5
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
rs869312865
GRIN1 ; LOC105376328
0.827 0.160 9 137156676 missense variant G/A;C snv 5
rs1556024875
THOC2
0.882 0.160 X 123634002 missense variant G/A snv 4
rs1556910184
HUWE1
0.882 0.240 X 53534615 missense variant C/G snv 4
rs730882202
CACNA1G
0.925 0.160 17 50571953 inframe deletion TTC/- delins 4
rs796053356
STXBP1
0.882 0.160 9 127663344 missense variant G/A snv 4
rs869025317
UNC80
0.925 0.160 2 209959707 missense variant G/C snv 4
rs869025318
UNC80
0.925 0.160 2 209820379 frameshift variant A/- delins 4
rs869025319
UNC80
0.925 0.160 2 209967586 stop gained T/A snv 4
rs1555321402
FOXG1
0.925 0.240 14 28768345 frameshift variant T/- delins 3
rs201968272
DDX11
0.925 0.160 12 31089147 missense variant G/A snv 3
rs387906739
LOC107984661 ; DYNC1H1
0.882 0.200 14 102039416 missense variant A/C snv 3
rs387906740
DYNC1H1
0.882 0.200 14 102002546 missense variant G/A snv 3