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: rs906090744
rs906090744
DNAH8
1 1.000 0.120 6 38722996 missense variant G/A;C snv 4.1E-06; 4.1E-06 0.010 1.000 1 2005 2005
dbSNP: rs386833708
rs386833708
CLN3
1 1.000 0.120 16 28491759 start lost T/C;G snv 8.0E-06 0.700 0
dbSNP: rs777625354
rs777625354
CLN3
1 1.000 0.120 16 28491758 start lost A/G snv 4.0E-06 0.700 0
dbSNP: rs1057516343
rs1057516343
CLN3
1 1.000 0.120 16 28491713 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1555469477
rs1555469477
CLN3
1 1.000 0.120 16 28491561 splice acceptor variant C/T snv 0.700 0
dbSNP: rs386833726
rs386833726
CLN3
1 1.000 0.120 16 28491558 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs386833700
rs386833700
CLN3
1 1.000 0.120 16 28491502 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1555469452
rs1555469452
CLN3
1 1.000 0.120 16 28491481 splice donor variant C/- delins 0.700 0
dbSNP: rs386833704
rs386833704
CLN3
1 1.000 0.120 16 28491477 splice region variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs386833705
rs386833705
CLN3
1 1.000 0.120 16 28489387 splice acceptor variant C/T snv 4.2E-06 0.700 0
dbSNP: rs1555469159
rs1555469159
CLN3
1 1.000 0.120 16 28489316 frameshift variant -/G delins 0.700 0
dbSNP: rs386833709
rs386833709
CLN3
2 0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs386833710
rs386833710
CLN3
1 1.000 0.120 16 28489288 splice donor variant A/C snv 0.700 0
dbSNP: rs386833711
rs386833711
CLN3
1 1.000 0.120 16 28489285 splice region variant C/G snv 0.700 0
dbSNP: rs1555469089
rs1555469089
CLN3
1 1.000 0.120 16 28488663 splice acceptor variant C/T snv 0.700 0
dbSNP: rs386833712
rs386833712
CLN3
1 1.000 0.120 16 28488651 frameshift variant -/C delins 0.700 1.000 1 2012 2012
dbSNP: rs386833713
rs386833713
CLN3
1 1.000 0.120 16 28488620 stop gained G/A snv 0.700 0
dbSNP: rs1057517215
rs1057517215
CLN3
1 1.000 0.120 16 28488603 frameshift variant AG/- delins 0.700 0
dbSNP: rs1478660606
rs1478660606
CLN3
1 1.000 0.120 16 28487743 splice acceptor variant T/G snv 7.0E-06 0.700 0
dbSNP: rs386833714
rs386833714
CLN3
1 1.000 0.120 16 28487734 missense variant A/G snv 0.800 1.000 4 1997 2012
dbSNP: rs386833715
rs386833715
CLN3
1 1.000 0.120 16 28487665 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs587779397
rs587779397
CLN3
1 1.000 0.120 16 28487664 frameshift variant -/A ins 4.0E-06 0.700 0
dbSNP: rs386833716
rs386833716
CLN3
1 1.000 0.120 16 28487662 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs386833717
rs386833717
CLN3
2 0.925 0.160 16 28487537 splice acceptor variant G/-;GGG delins 4.0E-06 0.700 0
dbSNP: rs386833719
rs386833719
CLN3
1 1.000 0.120 16 28487516 missense variant A/C;G snv 4.0E-06 0.800 1.000 4 1997 2012