Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894386
CLN5 ; FBXL3
0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06 2
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
rs121908200
TPP1
0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 2
rs121908202
TPP1
0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05 2
rs121908209
TPP1
0.925 0.120 11 6617045 missense variant C/G;T snv 4.0E-06; 4.0E-06 2
rs140948465
MFSD8
0.925 0.120 4 127930800 missense variant G/A;T snv 4.0E-06; 8.0E-06 2
rs28940280
FBXL3 ; CLN5
0.925 0.120 13 77000580 missense variant G/A snv 8.0E-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
rs386833975
CLN5 ; FBXL3
0.925 0.120 13 76995990 missense variant A/G snv 2
rs398122959
TPP1
0.925 0.120 11 6615199 missense variant A/C snv 4.0E-06 1.4E-05 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
rs1060502179
TPP1
1.000 0.120 11 6618823 missense variant A/C snv 7.0E-06 1
rs796052407
CTSD
1.000 0.120 11 1759569 missense variant G/A snv 4.0E-06 4.2E-05 1
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
rs113019349
TPP1
0.925 0.120 11 6616004 splice donor variant C/G;T snv 2
rs1555468634
CLN3
0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 2
rs386833651
PPT1
0.925 0.120 1 40089409 splice donor variant C/T snv 2
rs587778809
MFSD8
0.925 0.120 4 127938781 splice donor variant A/T snv 8.0E-06 2.8E-05 2
rs397515352
CLN6
0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05 3
rs1554902216
TPP1
0.925 0.120 11 6618820 frameshift variant AG/- delins 2