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: rs769146546
rs769146546
ERCC2
1 1.000 0.080 19 45354759 missense variant C/G;T snv 0.700 0
dbSNP: rs121913026
rs121913026
ERCC2
4 0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05 0.050 1.000 5 1996 2019
dbSNP: rs121913016
rs121913016
ERCC2
5 0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04 0.010 1.000 1 1996 1996
dbSNP: rs121913020
rs121913020
ERCC2
3 0.882 0.160 19 45368655 missense variant C/T snv 2.0E-05 6.3E-05 0.010 1.000 1 2013 2013
dbSNP: rs121913021
rs121913021
ERCC2
3 0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 1996 1996
dbSNP: rs121913045
rs121913045
ERCC3
3 0.882 0.240 2 127292785 missense variant A/G snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs121913046
rs121913046
ERCC3
3 0.882 0.240 2 127292726 missense variant T/G snv 0.010 1.000 1 1999 1999
dbSNP: rs376556895
rs376556895
ERCC2
4 0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs41556519
rs41556519
ERCC2
6 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.010 1.000 1 1996 1996
dbSNP: rs747619345
rs747619345
ERCC2
2 0.925 0.240 19 45365151 missense variant G/A snv 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs750323550
rs750323550
GTF2H4
2 0.925 0.240 6 30909503 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs762141272
rs762141272
ERCC2
3 0.882 0.160 19 45352579 missense variant C/T snv 1.6E-05 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs875989846
rs875989846
GTF2E2
2 0.925 0.080 8 30612400 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs875989847
rs875989847
GTF2E2
2 0.925 0.080 8 30607141 missense variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs900744746
rs900744746
GTF2H3
2 0.925 0.240 12 123651048 missense variant C/T snv 0.010 1.000 1 1999 1999