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: rs386833978
rs386833978
CLN5 ; FBXL3
1 1.000 0.120 13 76996035 missense variant G/C snv 0.800 1.000 10 1998 2015
dbSNP: rs1555274005
rs1555274005
CLN5 ; FBXL3
1 1.000 0.120 13 76996071 frameshift variant -/TGATG delins 0.700 0
dbSNP: rs386833979
rs386833979
CLN5 ; FBXL3
2 0.925 0.120 13 76996083 frameshift variant -/C delins 0.700 1.000 3 2000 2012
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: rs587780315
rs587780315
CLN5 ; FBXL3
2 1.000 0.120 13 76996086 frameshift variant G/- delins 0.700 1.000 2 2010 2013
dbSNP: rs869312751
rs869312751
CLN5 ; FBXL3
1 1.000 0.120 13 76996109 stop gained C/T snv 0.700 1.000 2 2012 2015
dbSNP: rs1555274014
rs1555274014
CLN5 ; FBXL3
1 1.000 0.120 13 76996128 splice donor variant G/A snv 0.700 0
dbSNP: rs1555274312
rs1555274312
CLN5 ; FBXL3
1 1.000 0.120 13 77000416 splice acceptor variant GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- del 0.700 0
dbSNP: rs386833981
rs386833981
CLN5 ; FBXL3
3 0.925 0.120 13 77000517 missense variant T/G snv 0.800 1.000 10 1998 2015
dbSNP: rs1555274337
rs1555274337
CLN5 ; FBXL3
1 1.000 0.120 13 77000556 frameshift variant -/CAGAGACA delins 0.700 0
dbSNP: rs1555274338
rs1555274338
CLN5 ; FBXL3
2 1.000 0.120 13 77000567 stop gained G/A;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 0.810 1.000 10 1998 2015
dbSNP: rs1555274343
rs1555274343
CLN5 ; FBXL3
1 1.000 0.120 13 77000594 frameshift variant GT/- delins 0.700 0
dbSNP: rs1555274344
rs1555274344
CLN5 ; FBXL3
1 1.000 0.120 13 77000605 frameshift variant CCTTTAAC/- del 0.700 0
dbSNP: rs386833982
rs386833982
CLN5 ; FBXL3
1 1.000 0.120 13 77000663 frameshift variant A/- delins 0.700 0
dbSNP: rs786204644
rs786204644
CLN5 ; FBXL3
2 0.925 0.120 13 77000667 frameshift variant AT/- delins 0.700 1.000 1 2012 2012
dbSNP: rs730882146
rs730882146
CLN5 ; FBXL3
1 1.000 0.120 13 77000680 missense variant G/A snv 4.0E-06 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: rs386833983
rs386833983
CLN5 ; FBXL3
1 1.000 0.120 13 77000695 frameshift variant GGAAATGAAACATCTG/- delins 0.700 0
dbSNP: rs1555274365
rs1555274365
CLN5 ; FBXL3
1 1.000 0.120 13 77000729 frameshift variant GGAA/- delins 0.700 0
dbSNP: rs386833963
rs386833963
CLN5 ; FBXL3
1 1.000 0.120 13 77000771 stop gained C/A snv 0.700 0
dbSNP: rs1555274369
rs1555274369
CLN5 ; FBXL3
1 1.000 0.120 13 77000796 frameshift variant A/- delins 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: rs1555274373
rs1555274373
CLN5 ; FBXL3
1 1.000 0.120 13 77000808 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs386833964
rs386833964
CLN5 ; FBXL3
1 1.000 0.120 13 77000813 frameshift variant CT/- delins 0.700 0