Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 7
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv 6
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv 5
rs1555649483
BPTF
0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 12
rs1554904772
BRSK2
0.882 0.280 11 1443490 missense variant G/A snv 4
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs387906271
CHD7
0.790 0.320 8 60801598 splice region variant G/C snv 11
rs773080572
CNTN6
1.000 0.040 3 1295712 stop gained C/A snv 1
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv 7
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1554944271
DEAF1
0.851 0.240 11 686925 missense variant C/G snv 14
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs1554943158
DEAF1
0.882 0.040 11 681045 inframe deletion CTT/- delins 6
rs766858016
DNMT3A
0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06 4
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs886039903
FGF12
0.807 0.200 3 192335434 missense variant C/T snv 6
rs1057518850
FMR1
1.000 0.040 X 147928320 splice acceptor variant A/G snv 2
rs879255530
FOXG1
0.925 0.160 14 28767832 missense variant A/T snv 2
rs869312699
GRIK4
0.925 0.160 11 120986102 protein altering variant CTGGCGCAGGAGGCC/GCT delins 4
rs534517447
GRIK4 ; LOC101929208
0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06 4
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv 5
rs1555103646
GRIN2B
1.000 0.040 12 13569964 missense variant C/A snv 4