Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386833712
CLN3
1.000 0.120 16 28488651 frameshift variant -/C delins 1
rs386833713
CLN3
1.000 0.120 16 28488620 stop gained G/A snv 1
rs386833714
CLN3
1.000 0.120 16 28487734 missense variant A/G snv 1
rs386833722
CLN3
1.000 0.120 16 28486651 splice acceptor variant C/G;T snv 1
rs386833724
CLN3
1.000 0.120 16 28486629 stop gained G/A;C snv 1
rs386833725
CLN3
1.000 0.120 16 28486626 stop gained G/C snv 1
rs386833727
CLN3
1.000 0.120 16 28486602 missense variant A/G snv 1
rs386833728
CLN3
1.000 0.120 16 28486577 splice donor variant C/G;T snv 1
rs386833729
CLN3
1.000 0.120 16 28486465 frameshift variant CT/- del 1
rs386833733
CLN3
1.000 0.120 16 28486449 missense variant C/T snv 1
rs386833739
CLN3
1.000 0.120 16 28482472 splice region variant C/T snv 1
rs386833741
CLN3
1.000 0.120 16 28482309 splice donor variant CCTCGCTCCTCTTACCAGCGGTATTGC/- delins 2.1E-05 1
rs386833742
CLN3
1.000 0.120 16 28482199 splice acceptor variant C/A;T snv 1
rs386833743
CLN3
1.000 0.120 16 28482182 stop gained G/A snv 1
rs386833720
CLN3
0.925 0.120 16 28487492 frameshift variant C/- delins 4.0E-06 7.0E-06 2
rs386833719
CLN3
1.000 0.120 16 28487516 missense variant A/C;G snv 4.0E-06 1
rs386833701
CLN3
1.000 0.120 16 28477739 stop gained C/A;G snv 4.0E-06 1
rs777625354
CLN3
1.000 0.120 16 28491758 start lost A/G snv 4.0E-06 1
rs386833700
CLN3
1.000 0.120 16 28491502 stop gained C/T snv 4.0E-06 1
rs386833717
CLN3
0.925 0.160 16 28487537 splice acceptor variant G/-;GGG delins 4.0E-06 2
rs386833703
CLN3
1.000 0.120 16 28477586 missense variant T/C snv 4.0E-06 7.0E-06 1
rs386833740
CLN3
0.925 0.120 16 28482344 frameshift variant -/T delins 3.2E-05; 4.0E-06 2
rs587779397
CLN3
1.000 0.120 16 28487664 frameshift variant -/A ins 4.0E-06 1
rs386833715
CLN3
1.000 0.120 16 28487665 frameshift variant -/A delins 4.0E-06 1
rs386833716
CLN3
1.000 0.120 16 28487662 missense variant C/T snv 4.0E-06 1