Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121434286
CLN3
0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 3
rs267606737
CLN3
0.882 0.120 16 28486427 stop gained G/T snv 4.0E-06 3
rs1057516677
CLN3
0.925 0.120 16 28477875 stop gained G/T snv 2
rs386833694
CLN3
0.925 0.120 16 28482161 missense variant G/A;T snv 4.0E-06 2
rs386833695
CLN3
0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 2
rs386833698
CLN3
0.925 0.120 16 28482102 splice region variant T/G snv 2
rs386833709
CLN3
0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 2
rs386833738
CLN3
0.925 0.120 16 28484003 splice region variant T/G snv 1.8E-04 2.1E-05 2
rs386833744
CLN3
0.925 0.160 16 28482173 missense variant C/A;T snv 2.0E-05 2
rs1057516267
CLN3
1.000 0.120 16 28482326 splice donor variant C/T snv 1
rs1057516343
CLN3
1.000 0.120 16 28491713 splice donor variant C/G;T snv 1
rs1057517287
CLN3
1.000 0.120 16 28486346 splice donor variant C/A snv 1
rs1057517350
CLN3
1.000 0.120 16 28482673 splice acceptor variant C/T snv 1
rs1418997146
CLN3
1.000 0.120 16 28482200 splice acceptor variant T/G snv 1
rs142456044
CLN3
1.000 0.120 16 28477818 stop gained G/A;C snv 1.2E-05 2.8E-05 1
rs1478660606
CLN3
1.000 0.120 16 28487743 splice acceptor variant T/G snv 7.0E-06 1
rs1555469089
CLN3
1.000 0.120 16 28488663 splice acceptor variant C/T snv 1
rs1555469477
CLN3
1.000 0.120 16 28491561 splice acceptor variant C/T snv 1
rs386833697
CLN3
1.000 0.120 16 28482107 stop gained G/A snv 8.1E-06 2.1E-05 1
rs386833699
CLN3
1.000 0.120 16 28482105 missense variant C/G snv 1
rs386833700
CLN3
1.000 0.120 16 28491502 stop gained C/T snv 4.0E-06 1
rs386833701
CLN3
1.000 0.120 16 28477739 stop gained C/A;G snv 4.0E-06 1
rs386833702
CLN3
1.000 0.120 16 28477636 splice acceptor variant C/A snv 8.0E-06 7.0E-06 1
rs386833703
CLN3
1.000 0.120 16 28477586 missense variant T/C snv 4.0E-06 7.0E-06 1
rs386833704
CLN3
1.000 0.120 16 28491477 splice region variant C/T snv 1.6E-05 1.4E-05 1