Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv 5
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
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
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 11
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv 7
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv 7
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1554846212
DUPD1 ; KAT6B
0.851 0.160 10 75030037 missense variant C/T snv 9
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs727503030
ELN
0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05 6
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv 25
rs121918494
FGFR2
0.790 0.160 10 121517363 missense variant G/C snv 25
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23