Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs746085696
TPP1
1.000 0.120 11 6619191 splice region variant C/G;T snv 4.0E-06 1
rs759080581
TPP1
1.000 0.120 11 6618809 stop gained G/A;T snv 1.2E-05; 4.0E-06 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
rs397515352
CLN6
0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05 3
rs121908080
CLN6
0.925 0.120 15 68211698 inframe deletion ATG/- delins 2
rs1554902216
TPP1
0.925 0.120 11 6618820 frameshift variant AG/- delins 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
rs386833720
CLN3
0.925 0.120 16 28487492 frameshift variant C/- delins 4.0E-06 7.0E-06 2
rs386833732
CLN3
0.925 0.120 16 28486455 frameshift variant C/-;CC delins 2
rs386833736
CLN3
0.925 0.120 16 28486401 frameshift variant -/A delins 1.2E-05 7.0E-06 2
rs386833740
CLN3
0.925 0.120 16 28482344 frameshift variant -/T delins 3.2E-05; 4.0E-06 2
rs386833966
FBXL3 ; CLN5
0.925 0.120 13 77000824 frameshift variant T/- delins 2
rs386833967
FBXL3 ; CLN5
0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-05 2
rs386833969
FBXL3 ; CLN5
0.925 0.120 13 77000918 frameshift variant AT/- delins 2
rs386833979
FBXL3 ; CLN5
0.925 0.120 13 76996083 frameshift variant -/C delins 2
rs587776892
DNAJC5
0.925 0.120 20 63930871 inframe deletion CTC/- delins 2
rs768422260
CLN6
0.925 0.120 15 68208280 inframe deletion GAG/- delins 1.4E-05 2
rs774543080
CLN6
0.925 0.120 15 68211765 frameshift variant AG/- delins 8.0E-06 2
rs786204644
FBXL3 ; CLN5
0.925 0.120 13 77000667 frameshift variant AT/- delins 2
rs1555273604
FBXL3 ; CLN5
1.000 0.120 13 76992207 frameshift variant -/ATCCGGGCTGG delins 1
rs1555273881
CLN5 ; FBXL3
1.000 0.120 13 76995075 frameshift variant C/- delins 1
rs1555468634
CLN3
0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 2
rs794729218
FBXL3 ; CLN5
1.000 0.120 13 76995933 frameshift variant G/- del 1