Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
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
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs1135402761
SYT1
0.827 0.320 12 79448958 missense variant T/C snv 11
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs144078282
CLPB
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 9
rs200203460
CLPB
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 9
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del 9
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs281875196
SMARCA2
0.851 0.320 9 2115927 missense variant G/A;C snv 9
rs1568359734
ASXL3
0.827 0.240 18 33738903 frameshift variant A/- delins 8
rs72555360
GLB1
0.807 0.280 3 33058221 missense variant G/A snv 4.4E-05 6.3E-05 8
rs1564341846
POMT1
0.790 0.280 9 131508926 missense variant C/A snv 8
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv 7