Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 19
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 10
rs80338933
SH3TC2
0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 9
rs185142838
ERCC6
0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05 5
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs1437184398
GPT2
0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06 4
rs146278035
ADGRG1
0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 4
rs1553749681
DOCK3
0.925 3 51064514 stop gained C/T snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs545986367
CSTB
0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 4
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05 3
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs1553212545
POGZ
1.000 1 151406046 stop gained G/A snv 3
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins 3
rs1555254256
SACS
1.000 13 23354906 stop gained C/T 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
rs372754256
FLG ; FLG-AS1
1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05 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
rs1064796453
CTNNB1
3 41235799 stop gained C/A;T snv 2
rs1213060424
DLG3
X 70449787 stop gained C/A;T snv 2
rs121434376
SETX
1.000 0.080 9 132327511 stop gained G/A snv 4.0E-06 7.0E-06 2
rs1553262429
GJC2
1.000 1 228157838 stop gained G/A snv 2
rs1556837420
MIR6895 ; KDM5C
1.000 X 53196897 stop gained G/A snv 2