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: rs202080674
rs202080674
ERCC6
4 0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06 0.800 1.000 5 1998 2017
dbSNP: rs368728467
rs368728467
ERCC6
1 1.000 0.160 10 49474074 missense variant A/G;T snv 0.800 1.000 5 1998 2017
dbSNP: rs751292948
rs751292948
ERCC6
1 1.000 0.160 10 49482798 stop gained C/G;T snv 4.0E-06 0.800 1.000 5 1998 2017
dbSNP: rs4253196
rs4253196
ERCC6
1 1.000 0.160 10 49473613 intron variant T/C;G snv 5.2E-05 0.700 1.000 1 2010 2010
dbSNP: rs786205168
rs786205168
ERCC6
1 1.000 0.160 10 49505892 frameshift variant C/- del 0.700 1.000 1 1998 1998
dbSNP: rs121917900
rs121917900
ERCC6
1 1.000 0.160 10 49500673 stop gained C/T snv 0.700 0
dbSNP: rs121917903
rs121917903
ERCC6
2 0.925 0.160 10 49532736 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1564725764
rs1564725764
ERCC6
1 1.000 0.160 10 49461393 stop gained C/T snv 0.700 0
dbSNP: rs387906262
rs387906262
ERCC6 ; PGBD3
1 1.000 0.160 10 49524457 frameshift variant -/T delins 0.700 0
dbSNP: rs527236039
rs527236039
ERCC6
1 1.000 0.160 10 49530716 splice region variant T/- del 7.0E-06 0.700 0
dbSNP: rs772801089
rs772801089
ERCC6
1 1.000 0.160 10 49472377 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs786205166
rs786205166
ERCC6 ; PGBD3
1 1.000 0.160 10 49524150 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs786205167
rs786205167
ERCC6
1 1.000 0.160 10 49483487 frameshift variant -/C delins 0.700 0
dbSNP: rs786205169
rs786205169
ERCC6
1 1.000 0.160 10 49482857 frameshift variant T/- del 0.700 0
dbSNP: rs786205173
rs786205173
ERCC6
1 1.000 0.160 10 49470347 frameshift variant -/A ins 0.700 0
dbSNP: rs786205174
rs786205174
ERCC6
1 1.000 0.160 10 49461431 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs786205175
rs786205175
ERCC6
1 1.000 0.160 10 49460428 frameshift variant T/- delins 0.700 0
dbSNP: rs797045562
rs797045562
ERCC6 ; PGBD3
1 1.000 0.160 10 49524579 frameshift variant -/A ins 0.700 0
dbSNP: rs1554788393
rs1554788393
ERCC6
3 0.882 0.240 10 49482818 missense variant T/C snv 0.700 1.000 5 1998 2017
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: 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: rs875989810
rs875989810
ERCC6
4 0.851 0.400 10 49528426 stop gained C/A snv 0.700 1.000 2 2015 2017
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: 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 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