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: rs1057516582
rs1057516582
CLN8
1 1.000 0.120 8 1771317 frameshift variant A/- del 0.700 0
dbSNP: rs1057516867
rs1057516867
CLN8
1 1.000 0.120 8 1771101 frameshift variant T/- del 0.700 0
dbSNP: rs1554448924
rs1554448924
CLN8
1 1.000 0.120 8 1771104 frameshift variant A/- del 0.700 0
dbSNP: rs386834139
rs386834139
CLN8
1 1.000 0.120 8 1771142 frameshift variant G/- del 0.700 0
dbSNP: rs386834132
rs386834132
CLN8
1 1.000 0.120 8 1780265 frameshift variant CT/- delins 0.700 1.000 3 2000 2012
dbSNP: rs1554449028
rs1554449028
CLN8
1 1.000 0.120 8 1771257 frameshift variant C/- delins 0.700 0
dbSNP: rs1554451504
rs1554451504
CLN8
1 1.000 0.120 8 1780299 frameshift variant T/- delins 0.700 0
dbSNP: rs34238807
rs34238807
CLN8
1 1.000 0.120 8 1771116 frameshift variant G/-;GG delins 4.0E-06 0.700 0
dbSNP: rs386834123
rs386834123
CLN8
1 1.000 0.120 8 1771233 inframe deletion AAG/- delins 0.700 0
dbSNP: rs386834135
rs386834135
CLN8
1 1.000 0.120 8 1780339 inframe deletion TGG/- delins 0.700 0
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: 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: 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: 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: rs28940569
rs28940569
CLN8
1 1.000 0.120 8 1780495 missense variant G/C snv 0.800 1.000 7 2004 2016
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: rs386834125
rs386834125
CLN8
1 1.000 0.120 8 1771281 missense variant A/G snv 0.800 1.000 7 2004 2016
dbSNP: rs386834126
rs386834126
CLN8
1 1.000 0.120 8 1771374 missense variant T/G snv 0.800 1.000 7 2004 2016
dbSNP: rs386834127
rs386834127
CLN8
1 1.000 0.120 8 1771469 missense variant C/T snv 4.0E-06 0.800 1.000 7 2004 2016
dbSNP: rs386834129
rs386834129
CLN8
1 1.000 0.120 8 1771100 missense variant C/A;G;T snv 2.0E-05; 4.0E-06 0.700 1.000 7 2004 2016
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: rs386834133
rs386834133
CLN8
1 1.000 0.120 8 1780287 missense variant A/G snv 0.800 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: 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: 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