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: rs121908292
rs121908292
CLN5 ; FBXL3
1 1.000 0.120 13 77000799 stop gained G/T snv 0.700 1.000 2 2008 2013
dbSNP: rs587780315
rs587780315
CLN5 ; FBXL3
2 1.000 0.120 13 76996086 frameshift variant G/- delins 0.700 1.000 2 2010 2013
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: rs1555274373
rs1555274373
CLN5 ; FBXL3
1 1.000 0.120 13 77000808 frameshift variant T/- delins 0.700 1.000 1 2013 2013
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: 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: rs786204644
rs786204644
CLN5 ; FBXL3
2 0.925 0.120 13 77000667 frameshift variant AT/- delins 0.700 1.000 1 2012 2012