Source: CLINVAR

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
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv 33
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs398124401
SRD5A3
0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 25
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs149830411
KANSL1
0.827 0.360 17 46171276 stop gained G/A snv 5.2E-05 5.6E-05 15
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
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs778139192
KIF7 ; TICRR
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 14
rs121907922
ELP4 ; PAX6
0.742 0.320 11 31789935 stop gained T/A snv 12
rs1114167291
ANKRD11
0.790 0.280 16 89281225 stop gained C/A snv 10
rs1213930919
TTN-AS1 ; TTN
0.882 0.120 2 178577785 stop gained G/A snv 9
rs1555932766
USP9X
0.882 0.080 X 41210540 stop gained C/T snv 9
rs1554236040
ARID1B
0.882 0.320 6 157201464 stop gained C/T snv 5
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
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32