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: 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: rs587778809
rs587778809
MFSD8
2 0.925 0.120 4 127938781 splice donor variant A/T snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs796052407
rs796052407
CTSD
1 1.000 0.120 11 1759569 missense variant G/A snv 4.0E-06 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs104894064
rs104894064
CLN8
3 0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 0.700 1.000 2 2000 2004
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: rs104894060
rs104894060
CLN8
3 0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06 0.700 1.000 4 2004 2014
dbSNP: rs587779411
rs587779411
CLN8
5 0.851 0.160 8 1780498 missense variant C/G;T snv 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: rs386833698
rs386833698
CLN3
2 0.925 0.120 16 28482102 splice region variant T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs386833695
rs386833695
CLN3
2 0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 6 1997 2013
dbSNP: rs386833694
rs386833694
CLN3
2 0.925 0.120 16 28482161 missense variant G/A;T snv 4.0E-06 0.700 1.000 6 1997 2009
dbSNP: rs386833740
rs386833740
CLN3
2 0.925 0.120 16 28482344 frameshift variant -/T delins 3.2E-05; 4.0E-06 0.700 0
dbSNP: rs762896453
rs762896453
CLN3
1 1.000 0.120 16 28482353 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs121434286
rs121434286
CLN3
3 0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 0.700 0
dbSNP: rs1555468634
rs1555468634
CLN3
2 0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 0.700 0
dbSNP: rs1267314028
rs1267314028
CLN3
1 1.000 0.120 16 28486388 synonymous variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs386833736
rs386833736
CLN3
2 0.925 0.120 16 28486401 frameshift variant -/A delins 1.2E-05 7.0E-06 0.700 0
dbSNP: rs267606737
rs267606737
CLN3
3 0.882 0.120 16 28486427 stop gained G/T snv 4.0E-06 0.710 1.000 1 2009 2009
dbSNP: rs386833732
rs386833732
CLN3
2 0.925 0.120 16 28486455 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs386833720
rs386833720
CLN3
2 0.925 0.120 16 28487492 frameshift variant C/- delins 4.0E-06 7.0E-06 0.700 1.000 3 1997 2010
dbSNP: rs386833709
rs386833709
CLN3
2 0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs386833659
rs386833659
PPT1
2 0.925 0.120 1 40078659 splice acceptor variant C/A;T snv 4.0E-06 0.700 1.000 3 2000 2007
dbSNP: rs386833651
rs386833651
PPT1
2 0.925 0.120 1 40089409 splice donor variant C/T snv 0.700 0
dbSNP: rs137852700
rs137852700
PPT1
4 0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05 0.710 1.000 4 1998 2014
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