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: 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: rs752510317
rs752510317
ERCC2
1 1.000 0.160 19 45352556 missense variant G/A snv 1.2E-05 0.710 1.000 1 2015 2015
dbSNP: rs746795177
rs746795177
ERCC2
1 1.000 0.160 19 45364121 splice acceptor variant T/C snv 1.3E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs758439420
rs758439420
ERCC2
1 1.000 0.160 19 45352351 missense variant C/A;T snv 8.0E-06; 1.6E-05 0.700 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1060503460
rs1060503460
NBN
2 0.925 0.200 8 89955461 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs1160237842
rs1160237842
FASTK
2 1.000 0.160 7 151078668 missense variant A/G snv 8.0E-06 0.010 1.000 1 2013 2013
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
dbSNP: rs1194327405
rs1194327405
TAF1
1 1.000 0.160 X 71377774 missense variant G/A snv 1.1E-05 0.010 1.000 1 2009 2009
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: rs1225118391
rs1225118391
AGT
2 0.925 0.200 1 230710637 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
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: rs1298314972
rs1298314972
FASTK
2 1.000 0.160 7 151079887 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1312839452
rs1312839452
NLRP2
1 1.000 0.160 19 54982237 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006