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: rs1340806384
rs1340806384
ERCC2
1 1.000 0.160 19 45364442 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs140522180
rs140522180
ERCC2
1 1.000 0.160 19 45353112 missense variant C/A;T snv 2.0E-05; 1.9E-04 0.700 0
dbSNP: rs144564120
rs144564120
ERCC2
2 0.925 0.160 19 45352249 missense variant G/C snv 3.1E-04 2.9E-04 0.700 0
dbSNP: rs1568546120
rs1568546120
ERCC2
2 1.000 0.160 19 45368993 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1568546252
rs1568546252
ERCC2
2 1.000 0.160 19 45369132 stop gained C/A snv 0.700 0
dbSNP: rs762309206
rs762309206
ERCC2
2 0.925 0.160 19 45364833 splice donor variant CACT/- delins 1.1E-04 0.700 0
dbSNP: rs772572683
rs772572683
ERCC2
1 1.000 0.160 19 45355676 missense variant C/T snv 4.0E-06 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: rs1402607735
rs1402607735
XRCC1 ; PINLYP
2 0.925 0.160 19 43575436 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs767747355
rs767747355
ERCC2
1 1.000 0.160 19 45364838 frameshift variant GAGT/- delins 1.2E-05 0.010 < 0.001 1 2016 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: 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: 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: 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: 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: 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