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: rs371739894
rs371739894
ERCC6
2 0.925 0.400 10 49505883 splice donor variant C/A snv 1.2E-05 2.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs376526037
rs376526037
ERCC6
8 0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05 0.700 1.000 1 2017 2017
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: rs751838040
rs751838040
ERCC6
2 0.925 0.400 10 49530797 stop gained G/A snv 1.2E-05 2.1E-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: 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
dbSNP: rs771781694
rs771781694
ERCC6
3 0.882 0.400 10 49530737 stop gained G/A;T snv 2.8E-05; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs906755254
rs906755254
ERCC6
3 0.882 0.400 10 49472461 stop gained G/A snv 4.0E-06 4.2E-05 0.700 1.000 1 1998 1998
dbSNP: rs1198472093
rs1198472093
ERCC6
3 0.882 0.400 10 49532542 splice donor variant C/G;T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs1228919836
rs1228919836
ERCC6
3 0.882 0.400 10 49493116 splice donor variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1317145066
rs1317145066
ERCC6
3 0.882 0.400 10 49506014 splice acceptor variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1362935450
rs1362935450
ERCC6
3 0.882 0.400 10 49478353 splice donor variant C/T snv 0.700 0
dbSNP: rs1441655600
rs1441655600
ERCC6
3 0.882 0.400 10 49482686 splice donor variant C/T snv 0.700 0
dbSNP: rs1554787554
rs1554787554
ERCC6
3 0.882 0.400 10 49474243 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554793174
rs1554793174
ERCC6 ; PGBD3
3 0.882 0.400 10 49524032 splice donor variant C/G snv 0.700 0
dbSNP: rs1554794073
rs1554794073
ERCC6
3 0.882 0.400 10 49528527 splice acceptor variant T/C snv 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: rs1554875114
rs1554875114
ERCC6
3 0.882 0.400 10 49470181 splice donor variant C/G snv 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: rs577021605
rs577021605
ERCC6
3 0.882 0.400 10 49532904 stop gained G/A snv 0.700 0