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
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
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
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22