Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 5
rs1554817910
ZMIZ1
1.000 10 79216266 missense variant A/G snv 4
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins 3
rs773171451
KCNQ2 ; LOC105372724
0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 5
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins 6
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs61749715
MECP2
0.851 0.120 X 154031154 missense variant G/A;C snv 8
rs1553632357
CTNNB1
0.882 0.120 3 41236421 stop gained G/T snv 5
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 6
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs1555307370
SOX5
0.882 0.160 12 23740986 stop gained G/A snv 4
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40