Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv 7
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv 5
rs1560092224
ZBTB20
0.925 0.040 3 114339276 missense variant T/A snv 5
rs1414334
HTR2C
0.851 0.160 X 114903581 intron variant C/G snv 5
rs534517447
GRIK4 ; LOC101929208
0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06 4
rs869312699
GRIK4
0.925 0.160 11 120986102 protein altering variant CTGGCGCAGGAGGCC/GCT delins 4
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs773080572
CNTN6
1.000 0.040 3 1295712 stop gained C/A snv 1
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 7
rs1555103646
GRIN2B
1.000 0.040 12 13569964 missense variant C/A snv 4
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv 5
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs1554904772
BRSK2
0.882 0.280 11 1443490 missense variant G/A snv 4
rs1057518850
FMR1
1.000 0.040 X 147928320 splice acceptor variant A/G snv 2
rs869312686
HCFC1
0.882 0.120 X 153952053 missense variant G/C;T snv 5
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv 17
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1553510171
TBR1
1.000 0.040 2 161416881 frameshift variant C/- del 2
rs1553510217
TBR1
1.000 0.040 2 161417083 missense variant A/T snv 2
rs1553510280
TBR1
1.000 0.040 2 161417690 frameshift variant GTTTTAA/- delins 2
rs1553510301
TBR1
0.925 0.040 2 161417794 missense variant T/C snv 3
rs1553510313
TBR1
1.000 0.040 2 161417827 stop gained C/T snv 2