Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 14
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs1057519369
NF1
0.790 0.280 17 31340532 frameshift variant -/G delins 13
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 13
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 13
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 11
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins 11
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv 9
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 9
rs397507509
PTPN11
0.807 0.240 12 112450359 missense variant G/C;T snv 9
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs1553630457
TGFBR2
0.882 0.240 3 30674231 missense variant T/C snv 8
rs1554496813
KMT2C
0.827 0.160 7 152177839 frameshift variant -/G delins 8
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv 7