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: rs1554793270
rs1554793270
ERCC6 ; PGBD3
3 0.882 0.400 10 49524295 stop gained C/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1554793305
rs1554793305
ERCC6 ; PGBD3
1 1.000 0.160 10 49524426 frameshift variant A/- del 0.700 0
dbSNP: rs1554794073
rs1554794073
ERCC6
3 0.882 0.400 10 49528527 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554794360
rs1554794360
ERCC6
3 0.882 0.400 10 49530824 frameshift variant G/- delins 0.700 0
dbSNP: rs1554794620
rs1554794620
ERCC6
3 0.882 0.400 10 49532705 frameshift variant GC/- delins 0.700 0
dbSNP: rs1554794640
rs1554794640
ERCC6
3 0.882 0.400 10 49532751 frameshift variant G/- delins 0.700 0
dbSNP: rs1554794641
rs1554794641
ERCC6
3 0.882 0.400 10 49532757 frameshift variant -/C delins 0.700 0
dbSNP: rs1554873950
rs1554873950
ERCC6
3 0.882 0.400 10 49460371 splice donor variant A/T snv 0.700 0
dbSNP: rs1554873973
rs1554873973
ERCC6
3 0.882 0.400 10 49460453 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554874073
rs1554874073
ERCC6
3 0.882 0.400 10 49461378 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1554875114
rs1554875114
ERCC6
3 0.882 0.400 10 49470181 splice donor variant C/G snv 0.700 0
dbSNP: rs1554875154
rs1554875154
ERCC6
3 0.882 0.400 10 49470332 frameshift variant -/A delins 0.700 0
dbSNP: rs1554875155
rs1554875155
ERCC6
3 0.882 0.400 10 49470346 frameshift variant T/- delins 0.700 0
dbSNP: rs1554875287
rs1554875287
ERCC6
3 0.882 0.400 10 49470890 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554875522
rs1554875522
ERCC6
3 0.882 0.400 10 49472908 splice donor variant C/T snv 0.700 0
dbSNP: rs185142838
rs185142838
ERCC6
5 0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05 0.700 1.000 2 2010 2016
dbSNP: rs373227647
rs373227647
ERCC6
7 0.790 0.440 10 49472472 splice acceptor variant T/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs376526037
rs376526037
ERCC6
8 0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs577021605
rs577021605
ERCC6
3 0.882 0.400 10 49532904 stop gained G/A snv 0.700 0
dbSNP: rs751448793
rs751448793
ERCC6
3 0.882 0.400 10 49474056 stop gained G/A snv 2.4E-05 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs754978734
rs754978734
ERCC6
3 0.882 0.400 10 49476312 splice acceptor variant T/C snv 1.2E-05 2.1E-05 0.700 1.000 1 2010 2010
dbSNP: rs762976316
rs762976316
ERCC6
3 0.882 0.400 10 49458898 stop gained G/A snv 1.6E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs765825423
rs765825423
ERCC6
3 0.882 0.400 10 49461382 frameshift variant CT/- del 2.0E-05 1.4E-05 0.700 0
dbSNP: rs766980240
rs766980240
ERCC6
3 0.882 0.400 10 49459235 splice acceptor variant C/G snv 2.0E-05 0.700 1.000 1 2010 2010
dbSNP: rs767247987
rs767247987
ERCC6
3 0.882 0.400 10 49483384 stop gained G/A;T snv 1.6E-05; 1.6E-05 0.700 1.000 1 2010 2010