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: rs77907221
rs77907221
XPC
3 0.882 0.160 3 14154795 intron variant AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.100 0.938 32 2001 2019
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.010 1.000 1 2015 2015
dbSNP: rs1568546252
rs1568546252
ERCC2
2 1.000 0.160 19 45369132 stop gained C/A snv 0.700 0
dbSNP: rs964247601
rs964247601
ERCC2
2 1.000 0.160 19 45368692 stop gained C/A;T snv 1.2E-05 0.700 0
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.960 25 2004 2016
dbSNP: rs376556895
rs376556895
ERCC2
4 0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06 0.810 1.000 15 1994 2016
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.917 12 2003 2016
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.100 0.917 12 2004 2015
dbSNP: rs121913016
rs121913016
ERCC2
5 0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04 0.720 1.000 8 1994 2004
dbSNP: rs121913019
rs121913019
ERCC2
3 0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06 0.710 1.000 8 1994 2016
dbSNP: rs1360631927
rs1360631927
ERCC2
4 0.851 0.200 19 45369114 missense variant C/T snv 7.0E-06 0.710 1.000 8 1994 2015
dbSNP: rs121913020
rs121913020
ERCC2
3 0.882 0.160 19 45368655 missense variant C/T snv 2.0E-05 6.3E-05 0.800 1.000 7 1994 2004
dbSNP: rs121913023
rs121913023
ERCC2
4 0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 7 1994 2004
dbSNP: rs121913024
rs121913024
ERCC2
4 0.851 0.400 19 45352802 missense variant G/A snv 5.6E-05 3.5E-05 0.800 1.000 7 1994 2004
dbSNP: rs121913025
rs121913025
ERCC2
2 0.925 0.240 19 45357295 missense variant A/G snv 0.700 1.000 7 1994 2004
dbSNP: rs753641926
rs753641926
ERCC2
1 1.000 0.160 19 45353113 missense variant G/A;T snv 4.4E-05; 4.0E-06 0.700 1.000 7 1994 2004
dbSNP: rs771824813
rs771824813
ERCC2
1 1.000 0.160 19 45353109 missense variant C/T snv 4.0E-06 0.700 1.000 7 1994 2004
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.070 0.857 7 2003 2014
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 1.000 6 2006 2011
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.050 1.000 5 2006 2013
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 1.000 3 2007 2016
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.020 0.500 2 2012 2014
dbSNP: rs143810759
rs143810759
LIG4
6 0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 0.020 1.000 2 2010 2012
dbSNP: rs41556519
rs41556519
ERCC2
6 0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 0.810 1.000 2 1996 2012