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: rs587782329
rs587782329
TP53
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs1052559
rs1052559
ERCC2 ; KLC3
2 1.000 0.040 19 45351661 stop gained T/A;G snv 0.010 1.000 1 2005 2005
dbSNP: rs1174029586
rs1174029586
CANX
1 5 179705693 missense variant G/C snv 8.2E-06 0.010 1.000 1 2005 2005
dbSNP: rs1242640031
rs1242640031
CRK
1 17 1456106 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2005 2005
dbSNP: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2005 2005
dbSNP: rs947996134
rs947996134
CCDC8
1 19 46412799 missense variant G/C snv 1.2E-05 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.060 0.833 6 2007 2019
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.080 0.875 8 2008 2016
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.030 1.000 3 2009 2013
dbSNP: rs1458974438
rs1458974438
STK11
9 0.807 0.080 19 1206957 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs199976573
rs199976573
ABCG2
4 0.925 0.120 4 88132618 missense variant C/T snv 6.4E-05 5.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs12072037
rs12072037
MFSD2A
4 0.882 0.080 1 39954534 upstream gene variant C/A snv 6.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs16906252
rs16906252
MGMT
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs775514340
rs775514340
CILK1
5 0.882 0.080 6 53041202 missense variant T/A;C snv 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.060 1.000 6 2012 2019
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.060 1.000 6 2012 2019
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.060 1.000 6 2012 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2012 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2012 2016
dbSNP: rs1018379423
rs1018379423
EPHB2
4 1 22907986 missense variant G/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs121913369
rs121913369
BRAF
12 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs372043866
rs372043866
ERBB2
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.020 1.000 2 2013 2015
dbSNP: rs10146204
rs10146204 		2 1.000 0.120 14 64352051 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2013 2013