Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516390
CLN5 ; FBXL3
1.000 0.120 13 76995901 splice acceptor variant G/- del 1
rs1555273609
CLN5 ; FBXL3
1.000 0.120 13 76992215 frameshift variant G/- delins 1
rs28940280
FBXL3 ; CLN5
0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06 2
rs386833980
FBXL3 ; CLN5
0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 2
rs1555274014
CLN5 ; FBXL3
1.000 0.120 13 76996128 splice donor variant G/A snv 1
rs1566219136
FBXL3 ; CLN5
1.000 0.120 13 76995993 missense variant G/A snv 1
rs267606738
FBXL3 ; CLN5
1.000 0.120 13 76995119 missense variant G/A snv 1
rs730882146
FBXL3 ; CLN5
1.000 0.120 13 77000680 missense variant G/A snv 4.0E-06 1
rs104894386
CLN5 ; FBXL3
0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06 2
rs1555274338
FBXL3 ; CLN5
1.000 0.120 13 77000567 stop gained G/A;C snv 2
rs764790770
CLN5 ; FBXL3
1.000 0.120 13 76992175 stop gained G/A;C snv 2.2E-04 2.8E-05 1
rs104894385
FBXL3 ; CLN5
0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-05 2
rs200348035
CLN5 ; FBXL3
1.000 0.120 13 76992182 stop gained G/A;T snv 4.5E-06 1
rs386833968
CLN5 ; FBXL3
1.000 0.120 13 77000882 stop gained G/A;T snv 4.3E-06 1
rs202146713
FBXL3 ; CLN5
1.000 0.120 13 76995233 splice region variant G/C snv 1.2E-05 2.1E-05 1
rs386833978
CLN5 ; FBXL3
1.000 0.120 13 76996035 missense variant G/C snv 1
rs764495616
FBXL3 ; CLN5
1.000 0.120 13 77000685 stop gained G/C;T snv 1
rs121908292
CLN5 ; FBXL3
1.000 0.120 13 77000799 stop gained G/T snv 1
rs1555274312
FBXL3 ; CLN5
1.000 0.120 13 77000416 splice acceptor variant GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- del 1
rs1555274365
CLN5 ; FBXL3
1.000 0.120 13 77000729 frameshift variant GGAA/- delins 1
rs386833983
CLN5 ; FBXL3
1.000 0.120 13 77000695 frameshift variant GGAAATGAAACATCTG/- delins 1
rs1555274343
FBXL3 ; CLN5
1.000 0.120 13 77000594 frameshift variant GT/- delins 1
rs386833966
FBXL3 ; CLN5
0.925 0.120 13 77000824 frameshift variant T/- delins 2
rs1555273992
CLN5 ; FBXL3
1.000 0.120 13 76995998 frameshift variant T/- delins 1
rs1555274373
CLN5 ; FBXL3
1.000 0.120 13 77000808 frameshift variant T/- delins 1