Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
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
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
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
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs114638163
MIPEP
0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs386834034
POMGNT1 ; TSPAN1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 9
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs72554640
PGK1 ; ATP7A
0.882 0.160 X 78011239 stop gained C/T snv 9
rs184953805
ATRIP ; TREX1 ; ATRIP-TREX1
0.882 0.200 3 48467284 stop gained G/A snv 8
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 6
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs765468645
TMEM67
0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 5
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 4
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv 4