Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386833981
FBXL3 ; CLN5
0.925 0.120 13 77000517 missense variant T/G snv 3
rs1555274338
FBXL3 ; CLN5
1.000 0.120 13 77000567 stop gained G/A;C snv 2
rs386833966
FBXL3 ; CLN5
0.925 0.120 13 77000824 frameshift variant T/- delins 2
rs386833967
FBXL3 ; CLN5
0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-05 2
rs386833969
FBXL3 ; CLN5
0.925 0.120 13 77000918 frameshift variant AT/- delins 2
rs386833975
CLN5 ; FBXL3
0.925 0.120 13 76995990 missense variant A/G snv 2
rs386833979
FBXL3 ; CLN5
0.925 0.120 13 76996083 frameshift variant -/C delins 2
rs587780315
FBXL3 ; CLN5
1.000 0.120 13 76996086 frameshift variant G/- delins 2
rs786204644
FBXL3 ; CLN5
0.925 0.120 13 77000667 frameshift variant AT/- delins 2
rs1057516390
CLN5 ; FBXL3
1.000 0.120 13 76995901 splice acceptor variant G/- del 1
rs1057516814
CLN5 ; FBXL3
1.000 0.120 13 76992171 frameshift variant TC/G delins 1
rs1057517134
CLN5 ; FBXL3
1.000 0.120 13 76992250 frameshift variant ACTGGCCGGTGCC/- delins 1
rs121908292
CLN5 ; FBXL3
1.000 0.120 13 77000799 stop gained G/T snv 1
rs1555273567
FBXL3 ; CLN5
1.000 0.120 13 76992116 frameshift variant C/- del 1
rs1555273609
CLN5 ; FBXL3
1.000 0.120 13 76992215 frameshift variant G/- delins 1
rs1555273882
CLN5 ; FBXL3
1.000 0.120 13 76995079 frameshift variant C/- delins 1
rs1555273992
CLN5 ; FBXL3
1.000 0.120 13 76995998 frameshift variant T/- delins 1
rs1555274005
FBXL3 ; CLN5
1.000 0.120 13 76996071 frameshift variant -/TGATG delins 1
rs1555274014
CLN5 ; FBXL3
1.000 0.120 13 76996128 splice donor variant G/A snv 1
rs1555274312
FBXL3 ; CLN5
1.000 0.120 13 77000416 splice acceptor variant GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- del 1
rs1555274337
CLN5 ; FBXL3
1.000 0.120 13 77000556 frameshift variant -/CAGAGACA delins 1
rs1555274343
FBXL3 ; CLN5
1.000 0.120 13 77000594 frameshift variant GT/- delins 1
rs1555274344
CLN5 ; FBXL3
1.000 0.120 13 77000605 frameshift variant CCTTTAAC/- del 1
rs1555274365
CLN5 ; FBXL3
1.000 0.120 13 77000729 frameshift variant GGAA/- delins 1
rs1555274369
FBXL3 ; CLN5
1.000 0.120 13 77000796 frameshift variant A/- delins 1