Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386833979
FBXL3 ; CLN5
0.925 0.120 13 76996083 frameshift variant -/C delins 2
rs386833980
FBXL3 ; CLN5
0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 2
rs398122959
TPP1
0.925 0.120 11 6615199 missense variant A/C snv 4.0E-06 1.4E-05 2
rs546989392
CLN5 ; FBXL3
0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 2
rs587776892
DNAJC5
0.925 0.120 20 63930871 inframe deletion CTC/- delins 2
rs587778809
MFSD8
0.925 0.120 4 127938781 splice donor variant A/T snv 8.0E-06 2.8E-05 2
rs763162812
TPP1
0.925 0.120 11 6616720 missense variant T/A snv 1.6E-05 2.8E-05 2
rs765380155
TPP1
0.925 0.120 11 6616374 missense variant C/T snv 4.0E-06 1.4E-05 2
rs768422260
CLN6
0.925 0.120 15 68208280 inframe deletion GAG/- delins 1.4E-05 2
rs774543080
CLN6
0.925 0.120 15 68211765 frameshift variant AG/- delins 8.0E-06 2
rs786204644
FBXL3 ; CLN5
0.925 0.120 13 77000667 frameshift variant AT/- delins 2
rs786204753
TPP1
0.925 0.120 11 6615217 stop gained C/T snv 2
rs1564855725
TPP1
0.882 0.160 11 6617621 splice region variant C/T snv 5
rs104894060
CLN8
0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06 3
rs104894064
CLN8
0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 3
rs119455957
TPP1
0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06 3
rs121434286
CLN3
0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 3
rs137852696
PPT1
0.882 0.120 1 40092409 missense variant T/G snv 1.6E-05 5.6E-05 3
rs267606737
CLN3
0.882 0.120 16 28486427 stop gained G/T snv 4.0E-06 3
rs756564767
TPP1
0.882 0.120 11 6617627 stop gained G/A snv 6.4E-05 4.2E-05 3
rs587779411
CLN8
0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 5
rs119455955
TPP1
0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 4
rs137852700
PPT1
0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05 4
rs56144125
TPP1
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 6