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: 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: rs1554448874
rs1554448874
CLN8
1 1.000 0.120 8 1771056 start lost T/C snv 0.700 0
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: 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: rs34238807
rs34238807
CLN8
1 1.000 0.120 8 1771116 frameshift variant G/-;GG delins 4.0E-06 0.700 0
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: 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: rs386834139
rs386834139
CLN8
1 1.000 0.120 8 1771142 frameshift variant G/- del 0.700 0
dbSNP: rs386834123
rs386834123
CLN8
1 1.000 0.120 8 1771233 inframe deletion AAG/- delins 0.700 0
dbSNP: rs1554449028
rs1554449028
CLN8
1 1.000 0.120 8 1771257 frameshift variant C/- delins 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: rs1554449047
rs1554449047
CLN8
1 1.000 0.120 8 1771280 stop gained C/T snv 0.700 0
dbSNP: rs386834125
rs386834125
CLN8
1 1.000 0.120 8 1771281 missense variant A/G snv 0.800 1.000 7 2004 2016
dbSNP: rs1057516582
rs1057516582
CLN8
1 1.000 0.120 8 1771317 frameshift variant A/- del 0.700 0
dbSNP: rs759830733
rs759830733
CLN8
1 1.000 0.120 8 1771337 stop gained A/T snv 7.0E-06 0.700 0
dbSNP: rs1554449124
rs1554449124
CLN8
1 1.000 0.120 8 1771360 stop gained G/A snv 0.700 0
dbSNP: rs1554449136
rs1554449136
CLN8
1 1.000 0.120 8 1771366 stop gained G/A snv 0.700 0
dbSNP: rs386834126
rs386834126
CLN8
1 1.000 0.120 8 1771374 missense variant T/G snv 0.800 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
dbSNP: rs554042394
rs554042394
CLN8
1 1.000 0.120 8 1771452 stop gained T/A;G snv 1.2E-05 0.700 0
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: rs386834128
rs386834128
CLN8
1 1.000 0.120 8 1771518 missense variant C/A;T snv 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: 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