Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs144495588
CLN8
0.925 0.120 8 1771553 stop gained G/C;T snv 8.0E-06; 1.2E-05 2
rs154774640
CLN6
0.925 0.120 15 68218584 stop gained G/C snv 8.0E-06 2.1E-05 2
rs1554902052
TPP1
0.925 0.120 11 6617430 splice acceptor variant T/C snv 2
rs202189057
TPP1
0.925 0.120 11 6617695 stop gained A/T snv 4.0E-06 2
rs28940280
FBXL3 ; CLN5
0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06 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
rs386833659
PPT1
0.925 0.120 1 40078659 splice acceptor variant C/A;T snv 4.0E-06 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
rs386833975
CLN5 ; FBXL3
0.925 0.120 13 76995990 missense variant A/G snv 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
rs587778809
MFSD8
0.925 0.120 4 127938781 splice donor variant A/T snv 8.0E-06 2.8E-05 2
rs63751177
GRN
1.000 0.120 17 44351438 stop gained G/A snv 2
rs750428882
TPP1
1.000 0.120 11 6616375 missense variant G/A;C snv 4.0E-06 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
rs786204753
TPP1
0.925 0.120 11 6615217 stop gained C/T snv 2
rs1060502179
TPP1
1.000 0.120 11 6618823 missense variant A/C snv 7.0E-06 1
rs1267314028
CLN3
1.000 0.120 16 28486388 synonymous variant G/A snv 1
rs1564855860
TPP1
1.000 0.120 11 6617769 stop gained G/C snv 1