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: rs104894484
rs104894484
CLN6
1 1.000 0.120 15 68211793 missense variant C/T snv 0.810 1.000 7 2002 2012
dbSNP: rs758921701
rs758921701
CLN6
1 1.000 0.120 15 68208180 missense variant G/A snv 1.2E-05 7.0E-06 0.800 1.000 7 2002 2012
dbSNP: rs764571295
rs764571295
CLN6
1 1.000 0.120 15 68209640 missense variant T/C;G snv 1.6E-05; 2.4E-05 0.800 1.000 6 2002 2012
dbSNP: rs150363441
rs150363441
CLN6
1 1.000 0.120 15 68208301 missense variant C/A;G;T snv 2.4E-05 0.700 1.000 6 2002 2012
dbSNP: rs1555438255
rs1555438255
CLN6
1 1.000 0.120 15 68208354 missense variant A/G snv 0.700 1.000 6 2002 2012
dbSNP: rs763944821
rs763944821
CLN6
1 1.000 0.120 15 68229536 missense variant C/T snv 8.2E-04 9.8E-05 0.700 1.000 6 2002 2012
dbSNP: rs121908080
rs121908080
CLN6
2 0.925 0.120 15 68211698 inframe deletion ATG/- delins 0.700 1.000 5 2002 2013
dbSNP: rs768422260
rs768422260
CLN6
2 0.925 0.120 15 68208280 inframe deletion GAG/- delins 1.4E-05 0.700 1.000 4 2003 2012
dbSNP: rs104894483
rs104894483
CLN6
3 0.925 0.120 15 68214373 stop gained C/A;G;T snv 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 0.700 1.000 3 2002 2011
dbSNP: rs154774640
rs154774640
CLN6
2 0.925 0.120 15 68218584 stop gained G/C snv 8.0E-06 2.1E-05 0.700 1.000 2 2011 2015
dbSNP: rs154774639
rs154774639
CLN6
1 1.000 0.120 15 68208186 frameshift variant G/- delins 1.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs1555438212
rs1555438212
CLN6
1 1.000 0.120 15 68208239 stop gained C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs1555438234
rs1555438234
CLN6
1 1.000 0.120 15 68208306 frameshift variant TGTCC/- delins 0.700 1.000 1 2007 2007
dbSNP: rs397515352
rs397515352
CLN6
3 0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs104894486
rs104894486
CLN6
1 1.000 0.120 15 68209639 stop gained G/A;C snv 0.700 0
dbSNP: rs1194940137
rs1194940137
CLN6
1 1.000 0.120 15 68208187 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs121908079
rs121908079
CLN6
1 1.000 0.120 15 68211289 inframe deletion ATA/- delins 0.700 0
dbSNP: rs1381427322
rs1381427322
CLN6
1 1.000 0.120 15 68229502 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs154774633
rs154774633
CLN6
2 0.925 0.120 15 68214387 missense variant A/G snv 0.700 0
dbSNP: rs154774636
rs154774636
CLN6
2 0.925 0.120 15 68229568 missense variant C/G snv 0.700 0
dbSNP: rs1555438229
rs1555438229
CLN6
1 1.000 0.120 15 68208288 frameshift variant -/AG delins 0.700 0
dbSNP: rs1555438411
rs1555438411
CLN6
1 1.000 0.120 15 68209637 stop gained C/T snv 0.700 0
dbSNP: rs1555438443
rs1555438443
CLN6
1 1.000 0.120 15 68209759 stop gained C/T snv 0.700 0
dbSNP: rs1555438614
rs1555438614
CLN6
1 1.000 0.120 15 68211262 splice donor variant C/A snv 0.700 0
dbSNP: rs1555440188
rs1555440188
CLN6
1 1.000 0.120 15 68229500 splice donor variant A/C snv 0.700 0