Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386833980
FBXL3 ; CLN5
0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 2
rs63751177
GRN
1.000 0.120 17 44351438 stop gained G/A snv 2
rs1267314028
CLN3
1.000 0.120 16 28486388 synonymous variant G/A snv 1
rs762896453
CLN3
1.000 0.120 16 28482353 synonymous variant G/A snv 4.0E-06 1
rs796052407
CTSD
1.000 0.120 11 1759569 missense variant G/A snv 4.0E-06 4.2E-05 1
rs794729218
FBXL3 ; CLN5
1.000 0.120 13 76995933 frameshift variant G/- del 1
rs587776892
DNAJC5
0.925 0.120 20 63930871 inframe deletion CTC/- delins 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
rs119455954
TPP1
0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05 2
rs121908199
TPP1
0.925 0.120 11 6615542 missense variant C/T snv 2
rs386833645
PPT1
0.925 0.120 1 40097236 start lost C/T snv 1.4E-05 2
rs386833651
PPT1
0.925 0.120 1 40089409 splice donor variant C/T snv 2
rs386833695
CLN3
0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 2
rs546989392
CLN5 ; FBXL3
0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 2
rs765380155
TPP1
0.925 0.120 11 6616374 missense variant C/T snv 4.0E-06 1.4E-05 2
rs786204753
TPP1
0.925 0.120 11 6615217 stop gained C/T snv 2
rs587779411
CLN8
0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 5
rs104894064
CLN8
0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 3
rs113019349
TPP1
0.925 0.120 11 6616004 splice donor variant C/G;T snv 2
rs121908209
TPP1
0.925 0.120 11 6617045 missense variant C/G;T snv 4.0E-06; 4.0E-06 2
rs746085696
TPP1
1.000 0.120 11 6619191 splice region variant C/G;T snv 4.0E-06 1
rs121908200
TPP1
0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 2
rs121434286
CLN3
0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 3
rs386833659
PPT1
0.925 0.120 1 40078659 splice acceptor variant C/A;T snv 4.0E-06 2