Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555248020
MED13L
1.000 12 116009052 stop gained G/C snv 3
rs1555535739
CTCF
1.000 16 67626653 stop gained C/T snv 3
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv 3
rs1556019107
PHF6
1.000 X 134415106 stop gained C/T snv 3
rs267606653
ALX4
0.925 11 44267607 stop gained G/A snv 3
rs587777526
ADNP
0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05 3
rs587783211
ASPM
0.925 0.120 1 197086966 stop gained G/A snv 2.0E-05 3.5E-05 3
rs761532715
PKDCC
1.000 2 42053250 stop gained C/A snv 3
rs763344375
HCFC1R1 ; THOC6
0.925 0.240 16 3026101 stop gained C/T snv 4.0E-06 7.0E-06 3
rs773157352
OTX2
1.000 14 56804235 stop gained G/A;T snv 8.0E-06 3
rs781978013
KMT2A
1.000 11 118472681 stop gained G/A;T snv 4.0E-06 3
rs797044863
ZC4H2
1.000 X 64921894 stop gained G/A snv 3
rs866395428
LCA5
1.000 0.040 6 79493633 stop gained G/A snv 3
rs875989879
CHD7
0.925 0.080 8 60853017 stop gained C/T snv 3
rs886041166
CHD7
1.000 8 60742366 stop gained C/T snv 3
rs917027829
CSF1R
1.000 5 150069942 stop gained G/A;T snv 4.0E-06 3
rs1318353774
CACNA1A
1.000 19 13298827 stop gained G/A;C snv 2
rs1427299519
ASXL1
1.000 20 32433315 stop gained C/T snv 8.0E-06 1.4E-05 2
rs143745703
GUCY2D
1.000 17 8003979 stop gained C/G;T snv 2
rs1553153365
HNRNPR
1 23310702 stop gained G/A snv 2
rs1553227742
ASPM
1.000 1 197142866 stop gained G/C snv 2
rs1553518509
MBD5
1.000 0.040 2 148468916 stop gained C/T snv 2
rs1554015303
NIPBL
1.000 0.080 5 36976342 stop gained C/T snv 2
rs1554189042
NSD1
1.000 5 177210101 stop gained -/AG ins 2
rs1554234424
ARID1B
1.000 6 157196295 stop gained T/A snv 2