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: rs386833975
rs386833975
CLN5 ; FBXL3
2 0.925 0.120 13 76995990 missense variant A/G snv 0.800 1.000 10 1998 2015
dbSNP: rs386833977
rs386833977
CLN5 ; FBXL3
1 1.000 0.120 13 76996028 missense variant C/T snv 0.800 1.000 10 1998 2015
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: rs386833981
rs386833981
CLN5 ; FBXL3
3 0.925 0.120 13 77000517 missense variant T/G snv 0.800 1.000 10 1998 2015
dbSNP: rs386833969
rs386833969
CLN5 ; FBXL3
2 0.925 0.120 13 77000918 frameshift variant AT/- delins 0.700 1.000 6 1998 2013
dbSNP: rs1555274387
rs1555274387
CLN5 ; FBXL3
1 1.000 0.120 13 77000883 frameshift variant T/- delins 0.700 1.000 3 2002 2013
dbSNP: rs386833979
rs386833979
CLN5 ; FBXL3
2 0.925 0.120 13 76996083 frameshift variant -/C delins 0.700 1.000 3 2000 2012
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: 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: rs1555274373
rs1555274373
CLN5 ; FBXL3
1 1.000 0.120 13 77000808 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs786204644
rs786204644
CLN5 ; FBXL3
2 0.925 0.120 13 77000667 frameshift variant AT/- delins 0.700 1.000 1 2012 2012
dbSNP: rs1057516390
rs1057516390
CLN5 ; FBXL3
1 1.000 0.120 13 76995901 splice acceptor variant G/- del 0.700 0
dbSNP: rs1057516814
rs1057516814
CLN5 ; FBXL3
1 1.000 0.120 13 76992171 frameshift variant TC/G delins 0.700 0
dbSNP: rs1057517134
rs1057517134
CLN5 ; FBXL3
1 1.000 0.120 13 76992250 frameshift variant ACTGGCCGGTGCC/- delins 0.700 0
dbSNP: rs1555273567
rs1555273567
CLN5 ; FBXL3
1 1.000 0.120 13 76992116 frameshift variant C/- del 0.700 0
dbSNP: rs1555273609
rs1555273609
CLN5 ; FBXL3
1 1.000 0.120 13 76992215 frameshift variant G/- delins 0.700 0
dbSNP: rs1555273882
rs1555273882
CLN5 ; FBXL3
1 1.000 0.120 13 76995079 frameshift variant C/- delins 0.700 0
dbSNP: rs1555273992
rs1555273992
CLN5 ; FBXL3
1 1.000 0.120 13 76995998 frameshift variant T/- delins 0.700 0
dbSNP: rs1555274005
rs1555274005
CLN5 ; FBXL3
1 1.000 0.120 13 76996071 frameshift variant -/TGATG delins 0.700 0
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: 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: rs1555274343
rs1555274343
CLN5 ; FBXL3
1 1.000 0.120 13 77000594 frameshift variant GT/- delins 0.700 0