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: rs786205171
rs786205171
ERCC6
3 0.882 0.400 10 49470424 frameshift variant T/- del 1.4E-05 0.700 1.000 1 2010 2010
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: rs1287286877
rs1287286877
ERCC6
3 0.882 0.400 10 49470367 frameshift variant -/TC delins 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1554874073
rs1554874073
ERCC6
3 0.882 0.400 10 49461378 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs786205172
rs786205172
ERCC6
3 0.882 0.400 10 49470352 frameshift variant -/AAGGTGGACCTTAAGCAGCCAGCCCT delins 7.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs1254008304
rs1254008304
ERCC6 ; PGBD3
3 0.882 0.400 10 49524649 frameshift variant -/GG delins 7.0E-06 0.700 0
dbSNP: rs1386369933
rs1386369933
ERCC6
3 0.882 0.400 10 49461463 frameshift variant -/G delins 7.0E-06 0.700 0
dbSNP: rs1554789393
rs1554789393
ERCC6
3 0.882 0.400 10 49493117 frameshift variant C/TT delins 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: 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: rs774791374
rs774791374
ERCC6
3 0.882 0.400 10 49482759 frameshift variant -/G delins 0.700 0
dbSNP: rs786205170
rs786205170
ERCC6
3 0.882 0.400 10 49470547 frameshift variant -/T delins 0.700 0
dbSNP: rs121917902
rs121917902
ERCC6 ; PGBD3
7 0.790 0.440 10 49524073 stop gained G/A snv 0.700 1.000 3 2008 2011
dbSNP: rs151242354
rs151242354
ERCC6
2 0.925 0.400 10 49482689 stop gained G/A snv 6.4E-05 9.1E-05 0.700 1.000 3 2010 2016
dbSNP: rs1198241866
rs1198241866
ERCC6 ; PGBD3
3 0.882 0.400 10 49524421 stop gained T/A snv 4.0E-06 0.700 1.000 2 2002 2010
dbSNP: rs121917904
rs121917904
ERCC6
2 0.925 0.400 10 49482809 stop gained G/A snv 2.4E-05 3.5E-05 0.700 1.000 2 2008 2016
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 1.000 2 2010 2013
dbSNP: rs875989810
rs875989810
ERCC6
4 0.851 0.400 10 49528426 stop gained C/A snv 0.700 1.000 2 2015 2017
dbSNP: rs121917901
rs121917901
ERCC6
7 0.790 0.440 10 49478437 stop gained G/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2010 2010
dbSNP: rs1554787509
rs1554787509
ERCC6
3 0.882 0.400 10 49474065 stop gained G/A snv 0.700 1.000 1 2010 2010