Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1554902216
TPP1
0.925 0.120 11 6618820 frameshift variant AG/- delins 2
rs1555468634
CLN3
0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 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
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
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
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
rs386833975
CLN5 ; FBXL3
0.925 0.120 13 76995990 missense variant A/G snv 2
rs386833979
FBXL3 ; CLN5
0.925 0.120 13 76996083 frameshift variant -/C delins 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