Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
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
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
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
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
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
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 37
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
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
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
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23