Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs200203460
CLPB
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 9
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv 6
rs757600616
WARS2
0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 6
rs773685207
MED13
0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05 6
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv 6
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv 5
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06 5
rs201111299
CENPJ
0.882 0.240 13 24906906 stop gained G/A snv 8.4E-05 9.1E-05 4
rs794726710
SCN1A ; SCN1A-AS1 ; LOC102724058
0.882 0.160 2 166013812 stop gained G/A snv 4
rs869312664
SCN2A
0.925 0.160 2 165386920 stop gained G/A;T snv 4
rs878853163
SATB2
0.925 0.200 2 199323850 stop gained T/A;C snv 4
rs878853169
NBEA
1.000 0.160 13 35550528 stop gained C/T snv 4
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs797045412
BICD2
0.776 0.280 9 92718565 missense variant G/A;T snv 17
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs142110773
FIGNL1 ; DDC
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 12
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 12
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs144078282
CLPB
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 9