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: 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: 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: 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: 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: 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: 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
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: rs1405999227
rs1405999227
EGFR
3 0.925 0.160 7 55156637 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
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: rs373917450
rs373917450
XPC
2 0.925 0.160 3 14158365 missense variant G/T snv 4.0E-06 0.010 1.000 1 2017 2017
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: 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: 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: rs77907221
rs77907221
XPC
3 0.882 0.160 3 14154795 intron variant AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs80357091
rs80357091
BRCA1
2 1.000 0.160 17 43104910 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 2013 2013