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: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 1995 1995
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: rs121913026
rs121913026
ERCC2
4 0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05 0.710 1.000 1 1996 1996
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: 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: 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: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.010 1.000 1 2004 2004
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2005 2005
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs1060503460
rs1060503460
NBN
2 0.925 0.200 8 89955461 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1180868926
rs1180868926
OGG1 ; CAMK1
2 0.925 0.200 3 9757095 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1181005582
rs1181005582
MPG ; NPRL3
2 0.925 0.200 16 85767 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006