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: rs28940280
rs28940280
CLN5 ; FBXL3
2 0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06 0.810 1.000 10 1998 2015
dbSNP: rs386833980
rs386833980
CLN5 ; FBXL3
2 0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 2010 2015
dbSNP: rs1555274014
rs1555274014
CLN5 ; FBXL3
1 1.000 0.120 13 76996128 splice donor variant G/A snv 0.700 0
dbSNP: rs1566219136
rs1566219136
CLN5 ; FBXL3
1 1.000 0.120 13 76995993 missense variant G/A snv 0.700 0
dbSNP: rs267606738
rs267606738
CLN5 ; FBXL3
1 1.000 0.120 13 76995119 missense variant G/A snv 0.700 0
dbSNP: rs730882146
rs730882146
CLN5 ; FBXL3
1 1.000 0.120 13 77000680 missense variant G/A snv 4.0E-06 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
dbSNP: rs1057516390
rs1057516390
CLN5 ; FBXL3
1 1.000 0.120 13 76995901 splice acceptor variant G/- del 0.700 0
dbSNP: rs1555273609
rs1555273609
CLN5 ; FBXL3
1 1.000 0.120 13 76992215 frameshift variant G/- delins 0.700 0
dbSNP: rs386833964
rs386833964
CLN5 ; FBXL3
1 1.000 0.120 13 77000813 frameshift variant CT/- delins 0.700 0
dbSNP: rs1555274344
rs1555274344
CLN5 ; FBXL3
1 1.000 0.120 13 77000605 frameshift variant CCTTTAAC/- del 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: rs750935331
rs750935331
CLN5 ; FBXL3
1 1.000 0.120 13 77000850 stop gained C/G;T snv 4.1E-06 0.700 0
dbSNP: rs386833963
rs386833963
CLN5 ; FBXL3
1 1.000 0.120 13 77000771 stop gained C/A snv 0.700 0
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: 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: rs1057517134
rs1057517134
CLN5 ; FBXL3
1 1.000 0.120 13 76992250 frameshift variant ACTGGCCGGTGCC/- delins 0.700 0
dbSNP: rs386833967
rs386833967
CLN5 ; FBXL3
2 0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-05 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