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: rs1131691003
rs1131691003
TP53
12 0.752 0.360 17 7676381 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
12 0.752 0.360 17 7675052 splice donor variant C/T snv 0.700 0
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;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 0.700 0
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs55832599
rs55832599
TP53
18 0.716 0.360 17 7673821 missense variant G/A snv 0.700 0
dbSNP: rs1059449
rs1059449
HLA-A
1 1.000 0.120 6 29942921 missense variant G/A snv 6.1E-02 9.0E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs2735383
rs2735383
OSGIN2 ; NBN
18 0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31 0.010 < 0.001 1 2011 2011
dbSNP: rs371828436
rs371828436
MMP2
1 1.000 0.120 16 55489798 missense variant G/A;T snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs55819519
rs55819519
TP53
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 < 0.001 1 2015 2015
dbSNP: rs7201
rs7201
MMP2
4 0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs763077439
rs763077439
MDM2
1 1.000 0.120 12 68839350 missense variant G/A snv 5.2E-05 2.1E-05 0.010 < 0.001 1 2015 2015
dbSNP: rs780391868
rs780391868
MMP2
1 1.000 0.120 16 55491915 missense variant G/A;C;T snv 8.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs884225
rs884225
EGFR
5 0.827 0.160 7 55206391 3 prime UTR variant T/C;G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.040 0.500 4 2011 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2013 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2013 2015
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.050 0.600 5 2006 2018
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.060 0.667 6 2006 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 0.750 4 2013 2017
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.050 0.800 5 2014 2018
dbSNP: rs29232
rs29232 		4 0.925 0.240 6 29643654 intergenic variant C/T snv 0.39 0.740 1.000 5 2009 2018