Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201754030 0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 2
rs114638163 0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 10
rs749838192 22 50524395 frameshift variant -/TGAGTCACTGCTGCATGCT ins 5.8E-04; 4.2E-06 8.9E-04 1
rs202234172 2 178689897 splice acceptor variant C/T snv 3.4E-04 4.7E-04 1
rs200797552 2 178578078 stop gained C/A;T snv 3.3E-04 1
rs563762318 10 110831154 missense variant G/A snv 2.8E-04 6.3E-05 1
rs143139258 0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04 4
rs727505352 2 178578835 stop gained G/A;T snv 1.5E-04 1
rs148894066
DSP
6 7579697 stop gained C/A;T snv 1.4E-04 1
rs6716782 2 178706956 splice acceptor variant T/G snv 1.3E-04 5.9E-04 1
rs74315379 0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04 5
rs587782987 2 178611274 splice region variant G/A snv 1.1E-04; 4.1E-06 1.0E-04 1
rs748369265 2 178601788 splice acceptor variant C/T snv 9.3E-05 1.4E-05 1
rs779996703 2 178567141 stop gained G/A;T snv 8.9E-05 1
rs72646846 0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05 4
rs137853197 0.925 0.040 1 77942756 missense variant A/G snv 7.2E-05 1.0E-04 3
rs768345594 2 178585291 stop gained G/A;T snv 2.0E-05; 6.9E-05 1
rs371678190 1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05 3
rs777602537 2 178576614 stop gained G/A;T snv 5.6E-05 1
rs397516695
DES
0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 1
rs397517497
TTN
1.000 0.120 2 178790707 splice donor variant C/T snv 4.8E-05 5.6E-05 2
rs397517587 2 178618768 stop gained G/A;T snv 4.1E-05 1
rs779488376
VCL
10 74095825 frameshift variant A/- del 4.0E-05 7.0E-06 1
rs140614802 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 10
rs373040154 0.925 0.160 2 178617388 stop gained G/A;T snv 3.2E-05 3