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
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv 8
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
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
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
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
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37