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: 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: 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: 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
dbSNP: rs200919197
rs200919197
MPG ; NPRL3
1 1.000 0.160 16 85481 missense variant C/G;T snv 1.2E-05; 9.6E-05 0.010 1.000 1 2006 2006
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: 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: 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: rs758748662
rs758748662
EGFR
1 1.000 0.160 7 55155911 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2011 2011
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: rs770085172
rs770085172
AGT
1 1.000 0.160 1 230710315 missense variant T/C snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs771366736
rs771366736
EGFR
1 1.000 0.160 7 55143380 missense variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs771929085
rs771929085
EGFR
1 1.000 0.160 7 55155941 missense variant G/A snv 1.2E-05 0.010 1.000 1 2011 2011
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: rs772572683
rs772572683
ERCC2
1 1.000 0.160 19 45355676 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121913025
rs121913025
ERCC2
2 0.925 0.240 19 45357295 missense variant A/G snv 0.700 1.000 7 1994 2004
dbSNP: rs587778271
rs587778271
ERCC2
2 0.925 0.160 19 45353296 frameshift variant AA/- delins 2.0E-04 0.700 1.000 3 2001 2016
dbSNP: rs1060503460
rs1060503460
NBN
2 0.925 0.200 8 89955461 missense variant A/T snv 0.010 1.000 1 2006 2006
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: 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: 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: rs139002770
rs139002770
ERCC2
2 0.925 0.200 19 45352772 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006