Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs764790770
CLN5 ; FBXL3
1.000 0.120 13 76992175 stop gained G/A;C snv 2.2E-04 2.8E-05 1
rs386833981
FBXL3 ; CLN5
0.925 0.120 13 77000517 missense variant T/G snv 3
rs104894385
FBXL3 ; CLN5
0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-05 2
rs1555274338
FBXL3 ; CLN5
1.000 0.120 13 77000567 stop gained G/A;C snv 2
rs28940280
FBXL3 ; CLN5
0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06 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
rs386833979
FBXL3 ; CLN5
0.925 0.120 13 76996083 frameshift variant -/C delins 2
rs386833980
FBXL3 ; CLN5
0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 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
rs148862100
FBXL3 ; CLN5
1.000 0.120 13 77000866 missense variant A/G snv 1.3E-05 7.0E-06 1
rs1555273567
FBXL3 ; CLN5
1.000 0.120 13 76992116 frameshift variant C/- del 1
rs1555274005
FBXL3 ; CLN5
1.000 0.120 13 76996071 frameshift variant -/TGATG delins 1
rs1555274312
FBXL3 ; CLN5
1.000 0.120 13 77000416 splice acceptor variant GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- del 1
rs1555274343
FBXL3 ; CLN5
1.000 0.120 13 77000594 frameshift variant GT/- delins 1
rs1555274369
FBXL3 ; CLN5
1.000 0.120 13 77000796 frameshift variant A/- delins 1
rs1566219136
FBXL3 ; CLN5
1.000 0.120 13 76995993 missense variant G/A snv 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
rs386833965
FBXL3 ; CLN5
1.000 0.120 13 77000817 frameshift variant TT/- del 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