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: 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
dbSNP: rs1555440206
rs1555440206
CLN6
1 1.000 0.120 15 68229584 start lost T/C snv 0.700 0
dbSNP: rs1567095153
rs1567095153
CLN6
1 1.000 0.120 15 68209749 frameshift variant -/G delins 0.700 0
dbSNP: rs1567096598
rs1567096598
CLN6
1 1.000 0.120 15 68214337 missense variant A/T snv 0.700 0
dbSNP: rs374681194
rs374681194
CLN6
1 1.000 0.120 15 68208321 missense variant C/A;T snv 2.0E-04 0.700 0
dbSNP: rs553192210
rs553192210
CLN6
1 1.000 0.120 15 68214177 non coding transcript exon variant C/A;G snv 2.8E-05 0.700 0
dbSNP: rs587779408
rs587779408
SMPD1
3 0.882 0.160 11 6391804 missense variant G/A snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs746753722
rs746753722
CLN6
1 1.000 0.120 15 68208397 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs747229909
rs747229909
CLN6
1 1.000 0.120 15 68211716 missense variant G/A;C snv 5.6E-05 0.700 0
dbSNP: rs751486476
rs751486476
CLN6
2 0.925 0.160 15 68218549 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs756522171
rs756522171
CLN6
2 1.000 0.120 15 68211674 splice donor variant C/T snv 1.2E-05 0.700 0
dbSNP: rs762902907
rs762902907
CLN6
1 1.000 0.120 15 68211306 frameshift variant -/A delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs774543080
rs774543080
CLN6
2 0.925 0.120 15 68211765 frameshift variant AG/- delins 8.0E-06 0.700 0
dbSNP: rs786205065
rs786205065
CLN6
1 1.000 0.120 15 68229578 frameshift variant C/- delins 0.700 0
dbSNP: rs786205066
rs786205066
CLN6
1 1.000 0.120 15 68211258 splice region variant C/A snv 0.700 0