Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs374052333
NPHP3-ACAD11 ; UBA5
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 27
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
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 16
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv 15
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 11
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05 10
rs397515415
HDAC8
0.807 0.240 X 72495216 stop gained G/A;T snv 10
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv 9
rs748106387
SMARCAL1
0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 9
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv 9
rs1218912272
FLG-AS1 ; FLG
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 8
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 8
rs1553538917
SATB2
0.882 0.120 2 199272423 stop gained G/A snv 7