Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 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
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs1559193213
SCN1A-AS1 ; SCN1A ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins 11
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs1057519942
PIK3CA
0.724 0.320 3 179203760 missense variant G/A snv 16
rs1553630457
TGFBR2
0.882 0.240 3 30674231 missense variant T/C snv 8
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 26
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv 5
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26