Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137852695
PPT1
0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 4
rs119455955
TPP1
0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 4
rs546989392
CLN5 ; FBXL3
0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 2
rs137852696
PPT1
0.882 0.120 1 40092409 missense variant T/G snv 1.6E-05 5.6E-05 3
rs119455954
TPP1
0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05 2
rs756564767
TPP1
0.882 0.120 11 6617627 stop gained G/A snv 6.4E-05 4.2E-05 3
rs796052407
CTSD
1.000 0.120 11 1759569 missense variant G/A snv 4.0E-06 4.2E-05 1
rs386833980
FBXL3 ; CLN5
0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 2
rs763162812
TPP1
0.925 0.120 11 6616720 missense variant T/A snv 1.6E-05 2.8E-05 2
rs587778809
MFSD8
0.925 0.120 4 127938781 splice donor variant A/T snv 8.0E-06 2.8E-05 2
rs386833967
FBXL3 ; CLN5
0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-05 2
rs386833695
CLN3
0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 2
rs154774640
CLN6
0.925 0.120 15 68218584 stop gained G/C snv 8.0E-06 2.1E-05 2
rs121908200
TPP1
0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 2
rs398122959
TPP1
0.925 0.120 11 6615199 missense variant A/C snv 4.0E-06 1.4E-05 2
rs386833634
PPT1
0.925 0.120 1 40092462 frameshift variant -/T delins 3.2E-05; 4.0E-06; 4.0E-06 1.4E-05 2
rs386833709
CLN3
0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 2
rs750033880
KCTD7
0.925 0.120 7 66633302 missense variant G/A snv 1.4E-05 3
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
rs386833645
PPT1
0.925 0.120 1 40097236 start lost C/T snv 1.4E-05 2
rs386833720
CLN3
0.925 0.120 16 28487492 frameshift variant C/- delins 4.0E-06 7.0E-06 2
rs1060502179
TPP1
1.000 0.120 11 6618823 missense variant A/C snv 7.0E-06 1
rs119455957
TPP1
0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06 3
rs386833736
CLN3
0.925 0.120 16 28486401 frameshift variant -/A delins 1.2E-05 7.0E-06 2