Gene: FBXL3 ×
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: rs386833973
rs386833973
CLN5 ; FBXL3
1 1.000 0.120 13 76995942 frameshift variant -/A ins 0.700 0
dbSNP: rs386833979
rs386833979
CLN5 ; FBXL3
2 0.925 0.120 13 76996083 frameshift variant -/C delins 0.700 1.000 3 2000 2012
dbSNP: rs386833970
rs386833970
CLN5 ; FBXL3
1 1.000 0.120 13 76992238 frameshift variant -/C delins 0.700 0
dbSNP: rs1555274337
rs1555274337
CLN5 ; FBXL3
1 1.000 0.120 13 77000556 frameshift variant -/CAGAGACA delins 0.700 0
dbSNP: rs1555274005
rs1555274005
CLN5 ; FBXL3
1 1.000 0.120 13 76996071 frameshift variant -/TGATG delins 0.700 0
dbSNP: rs1555274369
rs1555274369
CLN5 ; FBXL3
1 1.000 0.120 13 77000796 frameshift variant A/- delins 0.700 0
dbSNP: rs386833982
rs386833982
CLN5 ; FBXL3
1 1.000 0.120 13 77000663 frameshift variant A/- delins 0.700 0
dbSNP: rs148862100
rs148862100
CLN5 ; FBXL3
1 1.000 0.120 13 77000866 missense variant A/G snv 1.3E-05 7.0E-06 0.800 1.000 10 1998 2015
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: rs386833967
rs386833967
CLN5 ; FBXL3
2 0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-05 0.700 0
dbSNP: rs1057517134
rs1057517134
CLN5 ; FBXL3
1 1.000 0.120 13 76992250 frameshift variant ACTGGCCGGTGCC/- delins 0.700 0
dbSNP: rs386833969
rs386833969
CLN5 ; FBXL3
2 0.925 0.120 13 77000918 frameshift variant AT/- delins 0.700 1.000 6 1998 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: rs1555273567
rs1555273567
CLN5 ; FBXL3
1 1.000 0.120 13 76992116 frameshift variant C/- del 0.700 0
dbSNP: rs1555273882
rs1555273882
CLN5 ; FBXL3
1 1.000 0.120 13 76995079 frameshift variant C/- delins 0.700 0
dbSNP: rs386833963
rs386833963
CLN5 ; FBXL3
1 1.000 0.120 13 77000771 stop gained C/A snv 0.700 0
dbSNP: rs750935331
rs750935331
CLN5 ; FBXL3
1 1.000 0.120 13 77000850 stop gained C/G;T snv 4.1E-06 0.700 0
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: rs869312751
rs869312751
CLN5 ; FBXL3
1 1.000 0.120 13 76996109 stop gained C/T snv 0.700 1.000 2 2012 2015
dbSNP: rs386833971
rs386833971
CLN5 ; FBXL3
1 1.000 0.120 13 76995175 stop gained C/T snv 2.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs546989392
rs546989392
CLN5 ; FBXL3
2 0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs386833974
rs386833974
CLN5 ; FBXL3
1 1.000 0.120 13 76995980 stop gained C/T snv 0.700 0
dbSNP: rs1555274344
rs1555274344
CLN5 ; FBXL3
1 1.000 0.120 13 77000605 frameshift variant CCTTTAAC/- del 0.700 0
dbSNP: rs386833964
rs386833964
CLN5 ; FBXL3
1 1.000 0.120 13 77000813 frameshift variant CT/- delins 0.700 0
dbSNP: rs587780315
rs587780315
CLN5 ; FBXL3
2 1.000 0.120 13 76996086 frameshift variant G/- delins 0.700 1.000 2 2010 2013