Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894385
rs104894385
CLN5 ; FBXL3
2 0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-05 0.700 0
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
2 0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs104894483
rs104894483
CLN6
3 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 0.700 0
dbSNP: rs1057516677
rs1057516677
CLN3
2 0.925 0.120 16 28477875 stop gained G/T snv 0.700 0
dbSNP: rs1060502179
rs1060502179
TPP1
1 1.000 0.120 11 6618823 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs119455957
rs119455957
TPP1
3 0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121434286
rs121434286
CLN3
3 0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 0.700 0
dbSNP: rs121908080
rs121908080
CLN6
2 0.925 0.120 15 68211698 inframe deletion ATG/- delins 0.700 0
dbSNP: rs121908199
rs121908199
TPP1
2 0.925 0.120 11 6615542 missense variant C/T snv 0.700 0
dbSNP: rs121908200
rs121908200
TPP1
2 0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs137852695
rs137852695
PPT1
4 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.700 0
dbSNP: rs140948465
rs140948465
MFSD8
2 0.925 0.120 4 127930800 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs144495588
rs144495588
CLN8
2 0.925 0.120 8 1771553 stop gained G/C;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs154774640
rs154774640
CLN6
2 0.925 0.120 15 68218584 stop gained G/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs1554902216
rs1554902216
TPP1
2 0.925 0.120 11 6618820 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555273604
rs1555273604
CLN5 ; FBXL3
1 1.000 0.120 13 76992207 frameshift variant -/ATCCGGGCTGG delins 0.700 0
dbSNP: rs1555273881
rs1555273881
CLN5 ; FBXL3
1 1.000 0.120 13 76995075 frameshift variant C/- delins 0.700 0
dbSNP: rs1555468634
rs1555468634
CLN3
2 0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 0.700 0
dbSNP: rs1564855725
rs1564855725
TPP1
5 0.882 0.160 11 6617621 splice region variant C/T snv 0.700 0
dbSNP: rs1564855860
rs1564855860
TPP1
1 1.000 0.120 11 6617769 stop gained G/C snv 0.700 0
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
2 0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs386833634
rs386833634
PPT1
2 0.925 0.120 1 40092462 frameshift variant -/T delins 3.2E-05; 4.0E-06; 4.0E-06 1.4E-05 0.700 0
dbSNP: rs386833651
rs386833651
PPT1
2 0.925 0.120 1 40089409 splice donor variant C/T snv 0.700 0
dbSNP: rs386833732
rs386833732
CLN3
2 0.925 0.120 16 28486455 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs386833736
rs386833736
CLN3
2 0.925 0.120 16 28486401 frameshift variant -/A delins 1.2E-05 7.0E-06 0.700 0