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: 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: 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: rs121913017
rs121913017
ERCC2
1 1.000 0.160 19 45352223 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121913019
rs121913019
ERCC2
3 0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs121913023
rs121913023
ERCC2
4 0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs121913024
rs121913024
ERCC2
4 0.851 0.400 19 45352802 missense variant G/A snv 5.6E-05 3.5E-05 0.010 1.000 1 2001 2001
dbSNP: rs121913025
rs121913025
ERCC2
2 0.925 0.240 19 45357295 missense variant A/G snv 0.700 0
dbSNP: rs121913028
rs121913028
ERCC1
4 0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs121917901
rs121917901
ERCC6
7 0.790 0.440 10 49478437 stop gained G/A snv 7.2E-05 4.9E-05 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: rs121917904
rs121917904
ERCC6
2 0.925 0.400 10 49482809 stop gained G/A snv 2.4E-05 3.5E-05 0.700 0
dbSNP: rs121917905
rs121917905
ERCC6
1 1.000 0.160 10 49471085 missense variant A/C;G snv 0.800 1.000 1 2010 2010
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: rs1232856265
rs1232856265
ERCC3
2 0.925 0.240 2 127261248 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs1254008304
rs1254008304
ERCC6 ; PGBD3
3 0.882 0.400 10 49524649 frameshift variant -/GG delins 7.0E-06 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: 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: rs1386369933
rs1386369933
ERCC6
3 0.882 0.400 10 49461463 frameshift variant -/G delins 7.0E-06 0.700 0
dbSNP: rs1441655600
rs1441655600
ERCC6
3 0.882 0.400 10 49482686 splice donor variant C/T snv 0.700 0
dbSNP: rs1554787509
rs1554787509
ERCC6
3 0.882 0.400 10 49474065 stop gained G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1554787554
rs1554787554
ERCC6
3 0.882 0.400 10 49474243 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554788393
rs1554788393
ERCC6
3 0.882 0.240 10 49482818 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs1554789393
rs1554789393
ERCC6
3 0.882 0.400 10 49493117 frameshift variant C/TT delins 0.700 0
dbSNP: rs1554793174
rs1554793174
ERCC6 ; PGBD3
3 0.882 0.400 10 49524032 splice donor variant C/G snv 0.700 0