Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386833736
CLN3
0.925 0.120 16 28486401 frameshift variant -/A delins 1.2E-05 7.0E-06 2
rs1555273604
FBXL3 ; CLN5
1.000 0.120 13 76992207 frameshift variant -/ATCCGGGCTGG delins 1
rs386833979
FBXL3 ; CLN5
0.925 0.120 13 76996083 frameshift variant -/C delins 2
rs397515352
CLN6
0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05 3
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
rs386833740
CLN3
0.925 0.120 16 28482344 frameshift variant -/T delins 3.2E-05; 4.0E-06 2
rs398122959
TPP1
0.925 0.120 11 6615199 missense variant A/C 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
rs386833975
CLN5 ; FBXL3
0.925 0.120 13 76995990 missense variant A/G snv 2
rs202189057
TPP1
0.925 0.120 11 6617695 stop gained A/T snv 4.0E-06 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
rs1554902216
TPP1
0.925 0.120 11 6618820 frameshift variant AG/- delins 2
rs774543080
CLN6
0.925 0.120 15 68211765 frameshift variant AG/- delins 8.0E-06 2
rs386833969
FBXL3 ; CLN5
0.925 0.120 13 77000918 frameshift variant AT/- delins 2
rs786204644
FBXL3 ; CLN5
0.925 0.120 13 77000667 frameshift variant AT/- delins 2
rs121908080
CLN6
0.925 0.120 15 68211698 inframe deletion ATG/- delins 2
rs1555468634
CLN3
0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 2
rs386833720
CLN3
0.925 0.120 16 28487492 frameshift variant C/- delins 4.0E-06 7.0E-06 2
rs1555273881
CLN5 ; FBXL3
1.000 0.120 13 76995075 frameshift variant C/- delins 1
rs386833732
CLN3
0.925 0.120 16 28486455 frameshift variant C/-;CC delins 2
rs119455957
TPP1
0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06 3
rs56144125
TPP1
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 6
rs104894483
CLN6
0.925 0.120 15 68214373 stop gained C/A;G;T snv 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 3
rs121434286
CLN3
0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 3