Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1555274373
CLN5 ; FBXL3
1.000 0.120 13 77000808 frameshift variant T/- delins 1
rs1555274387
CLN5 ; FBXL3
1.000 0.120 13 77000883 frameshift variant T/- delins 1
rs1566219136
FBXL3 ; CLN5
1.000 0.120 13 76995993 missense variant G/A snv 1
rs200348035
CLN5 ; FBXL3
1.000 0.120 13 76992182 stop gained G/A;T snv 4.5E-06 1
rs202146713
FBXL3 ; CLN5
1.000 0.120 13 76995233 splice region variant G/C snv 1.2E-05 2.1E-05 1
rs267606738
FBXL3 ; CLN5
1.000 0.120 13 76995119 missense variant G/A snv 1
rs386833963
FBXL3 ; CLN5
1.000 0.120 13 77000771 stop gained C/A snv 1
rs386833964
CLN5 ; FBXL3
1.000 0.120 13 77000813 frameshift variant CT/- delins 1
rs386833965
FBXL3 ; CLN5
1.000 0.120 13 77000817 frameshift variant TT/- del 1
rs386833968
CLN5 ; FBXL3
1.000 0.120 13 77000882 stop gained G/A;T snv 4.3E-06 1
rs386833970
FBXL3 ; CLN5
1.000 0.120 13 76992238 frameshift variant -/C delins 1
rs386833971
FBXL3 ; CLN5
1.000 0.120 13 76995175 stop gained C/T snv 2.4E-05 1
rs386833972
CLN5 ; FBXL3
1.000 0.120 13 76995939 stop gained T/G snv 4.0E-06; 4.0E-06 1
rs386833973
CLN5 ; FBXL3
1.000 0.120 13 76995942 frameshift variant -/A ins 1
rs386833974
CLN5 ; FBXL3
1.000 0.120 13 76995980 stop gained C/T snv 1
rs386833976
FBXL3 ; CLN5
1.000 0.120 13 76996008 missense variant T/C snv 4.0E-06 1
rs386833977
FBXL3 ; CLN5
1.000 0.120 13 76996028 missense variant C/T snv 1
rs386833978
CLN5 ; FBXL3
1.000 0.120 13 76996035 missense variant G/C snv 1