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: rs137852883
rs137852883
CLN8
1 1.000 0.120 8 1771142 missense variant G/A;C;T snv 4.0E-06; 2.4E-05 0.800 1.000 7 2004 2016
dbSNP: rs781166361
rs781166361
CLN8
1 1.000 0.120 8 1780326 missense variant T/G snv 4.0E-06 0.700 1.000 7 2004 2016
dbSNP: rs386834134
rs386834134
CLN8
1 1.000 0.120 8 1780317 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 7 2004 2016
dbSNP: rs587779411
rs587779411
CLN8
5 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs188259026
rs188259026
CLN8
1 1.000 0.120 8 1771563 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs756267448
rs756267448
CLN8
1 1.000 0.120 8 1771598 splice donor variant G/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs386834130
rs386834130
CLN8
1 1.000 0.120 8 1771527 missense variant A/G snv 8.0E-06 7.0E-06 0.800 1.000 7 2004 2016
dbSNP: rs144495588
rs144495588
CLN8
2 0.925 0.120 8 1771553 stop gained G/C;T snv 8.0E-06; 1.2E-05 0.700 1.000 2 2000 2015
dbSNP: rs554042394
rs554042394
CLN8
1 1.000 0.120 8 1771452 stop gained T/A;G snv 1.2E-05 0.700 0
dbSNP: rs143730802
rs143730802
CLN8
4 0.882 0.160 8 1771055 start lost A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs149308952
rs149308952
CLN8
1 1.000 0.120 8 1771524 missense variant A/G snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs746645358
rs746645358
CLN8
1 1.000 0.120 8 1780415 missense variant G/A snv 2.0E-05 7.0E-06 0.800 1.000 8 2004 2016
dbSNP: rs139003032
rs139003032
CLN8
1 1.000 0.120 8 1780512 missense variant A/G;T snv 2.0E-05; 3.3E-04 0.800 1.000 7 2004 2016
dbSNP: rs104894064
rs104894064
CLN8
3 0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 0.700 0
dbSNP: rs386834124
rs386834124
CLN8
4 0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05 0.800 1.000 7 2004 2016
dbSNP: rs104894060
rs104894060
CLN8
3 0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06 0.800 1.000 8 2004 2016
dbSNP: rs386834136
rs386834136
CLN8
1 1.000 0.120 8 1780367 missense variant G/A snv 4.4E-05 3.5E-05 0.700 1.000 7 2004 2016
dbSNP: rs142269885
rs142269885
CLN8
1 1.000 0.120 8 1771428 missense variant A/C;G;T snv 9.7E-04 0.700 0