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: rs1057516390
rs1057516390
CLN5 ; FBXL3
1 1.000 0.120 13 76995901 splice acceptor variant G/- del 0.700 0
dbSNP: rs1555273609
rs1555273609
CLN5 ; FBXL3
1 1.000 0.120 13 76992215 frameshift variant G/- delins 0.700 0
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
2 0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06 0.810 1.000 10 1998 2015
dbSNP: rs386833980
rs386833980
CLN5 ; FBXL3
2 0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 2010 2015
dbSNP: rs1555274014
rs1555274014
CLN5 ; FBXL3
1 1.000 0.120 13 76996128 splice donor variant G/A snv 0.700 0
dbSNP: rs1566219136
rs1566219136
CLN5 ; FBXL3
1 1.000 0.120 13 76995993 missense variant G/A snv 0.700 0
dbSNP: rs267606738
rs267606738
CLN5 ; FBXL3
1 1.000 0.120 13 76995119 missense variant G/A snv 0.700 0
dbSNP: rs730882146
rs730882146
CLN5 ; FBXL3
1 1.000 0.120 13 77000680 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
2 0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06 0.800 1.000 10 1998 2015
dbSNP: rs1555274338
rs1555274338
CLN5 ; FBXL3
2 1.000 0.120 13 77000567 stop gained G/A;C snv 0.700 0
dbSNP: rs764790770
rs764790770
CLN5 ; FBXL3
1 1.000 0.120 13 76992175 stop gained G/A;C snv 2.2E-04 2.8E-05 0.700 0
dbSNP: rs386833968
rs386833968
CLN5 ; FBXL3
1 1.000 0.120 13 77000882 stop gained G/A;T snv 4.3E-06 0.700 1.000 10 1998 2015
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 1.000 2 2000 2002
dbSNP: rs200348035
rs200348035
CLN5 ; FBXL3
1 1.000 0.120 13 76992182 stop gained G/A;T snv 4.5E-06 0.700 0
dbSNP: rs386833978
rs386833978
CLN5 ; FBXL3
1 1.000 0.120 13 76996035 missense variant G/C snv 0.800 1.000 10 1998 2015
dbSNP: rs202146713
rs202146713
CLN5 ; FBXL3
1 1.000 0.120 13 76995233 splice region variant G/C snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs764495616
rs764495616
CLN5 ; FBXL3
1 1.000 0.120 13 77000685 stop gained G/C;T snv 0.700 0
dbSNP: rs121908292
rs121908292
CLN5 ; FBXL3
1 1.000 0.120 13 77000799 stop gained G/T snv 0.700 1.000 2 2008 2013
dbSNP: rs1555274312
rs1555274312
CLN5 ; FBXL3
1 1.000 0.120 13 77000416 splice acceptor variant GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- del 0.700 0
dbSNP: rs1555274365
rs1555274365
CLN5 ; FBXL3
1 1.000 0.120 13 77000729 frameshift variant GGAA/- delins 0.700 0
dbSNP: rs386833983
rs386833983
CLN5 ; FBXL3
1 1.000 0.120 13 77000695 frameshift variant GGAAATGAAACATCTG/- delins 0.700 0
dbSNP: rs1555274343
rs1555274343
CLN5 ; FBXL3
1 1.000 0.120 13 77000594 frameshift variant GT/- delins 0.700 0
dbSNP: rs1555274387
rs1555274387
CLN5 ; FBXL3
1 1.000 0.120 13 77000883 frameshift variant T/- delins 0.700 1.000 3 2002 2013
dbSNP: rs1555274373
rs1555274373
CLN5 ; FBXL3
1 1.000 0.120 13 77000808 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1555273992
rs1555273992
CLN5 ; FBXL3
1 1.000 0.120 13 76995998 frameshift variant T/- delins 0.700 0