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: rs202146713
rs202146713
CLN5 ; FBXL3
1 1.000 0.120 13 76995233 splice region variant G/C snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs267606738
rs267606738
CLN5 ; FBXL3
1 1.000 0.120 13 76995119 missense variant G/A snv 0.700 0
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: rs386833963
rs386833963
CLN5 ; FBXL3
1 1.000 0.120 13 77000771 stop gained C/A snv 0.700 0
dbSNP: rs386833964
rs386833964
CLN5 ; FBXL3
1 1.000 0.120 13 77000813 frameshift variant CT/- delins 0.700 0
dbSNP: rs386833965
rs386833965
CLN5 ; FBXL3
1 1.000 0.120 13 77000817 frameshift variant TT/- del 0.700 0
dbSNP: rs386833966
rs386833966
CLN5 ; FBXL3
2 0.925 0.120 13 77000824 frameshift variant T/- 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: rs386833968
rs386833968
CLN5 ; FBXL3
1 1.000 0.120 13 77000882 stop gained G/A;T snv 4.3E-06 0.700 1.000 10 1998 2015
dbSNP: rs386833969
rs386833969
CLN5 ; FBXL3
2 0.925 0.120 13 77000918 frameshift variant AT/- delins 0.700 1.000 6 1998 2013
dbSNP: rs386833970
rs386833970
CLN5 ; FBXL3
1 1.000 0.120 13 76992238 frameshift variant -/C delins 0.700 0
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: rs386833972
rs386833972
CLN5 ; FBXL3
1 1.000 0.120 13 76995939 stop gained T/G snv 4.0E-06; 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs386833973
rs386833973
CLN5 ; FBXL3
1 1.000 0.120 13 76995942 frameshift variant -/A ins 0.700 0
dbSNP: rs386833974
rs386833974
CLN5 ; FBXL3
1 1.000 0.120 13 76995980 stop gained C/T snv 0.700 0
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: rs386833976
rs386833976
CLN5 ; FBXL3
1 1.000 0.120 13 76996008 missense variant T/C snv 4.0E-06 0.800 1.000 10 1998 2015
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: rs386833978
rs386833978
CLN5 ; FBXL3
1 1.000 0.120 13 76996035 missense variant G/C snv 0.800 1.000 10 1998 2015
dbSNP: rs386833979
rs386833979
CLN5 ; FBXL3
2 0.925 0.120 13 76996083 frameshift variant -/C delins 0.700 1.000 3 2000 2012
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: rs386833981
rs386833981
CLN5 ; FBXL3
3 0.925 0.120 13 77000517 missense variant T/G snv 0.800 1.000 10 1998 2015
dbSNP: rs386833982
rs386833982
CLN5 ; FBXL3
1 1.000 0.120 13 77000663 frameshift variant A/- delins 0.700 0
dbSNP: rs386833983
rs386833983
CLN5 ; FBXL3
1 1.000 0.120 13 77000695 frameshift variant GGAAATGAAACATCTG/- delins 0.700 0
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