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: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2014 2014
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs72631823
rs72631823
MIR34A ; MIR34AHG
2 0.925 0.080 1 9151723 non coding transcript exon variant C/T snv 1.2E-04 4.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs765433422
rs765433422
PTEN
7 0.807 0.160 10 87952250 stop gained G/A;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3734091
rs3734091
XRCC4
19 0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs1054135
rs1054135
FABP4 ; LOC101927118
5 0.851 0.240 8 81478525 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs184967
rs184967
MSH3
2 0.925 0.080 5 80854162 missense variant A/G;T snv 0.87 0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 < 0.001 1 2019 2019
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2015 2018
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs3865014
rs3865014
GLCE
8 0.851 0.080 15 69269179 missense variant G/A snv 0.75 0.69 0.010 1.000 1 2017 2017
dbSNP: rs999737
rs999737
RAD51B
8 0.776 0.200 14 68567965 intron variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs552752779
rs552752779
BRIP1
2 0.925 0.080 17 61784427 splice region variant A/C;G snv 4.0E-06; 2.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs635538
rs635538
TCF4 ; LOC105372126
2 0.925 0.080 18 55606383 intron variant G/A snv 0.94 0.010 1.000 1 2018 2018
dbSNP: rs780439043
rs780439043
EGFR
3 0.925 0.080 7 55205301 missense variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2015 2015
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2015 2015
dbSNP: rs4784227
rs4784227
CASC16
8 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs80350973
rs80350973
LOC730100
2 0.925 0.080 2 52252219 intron variant A/T snv 2.1E-05 0.010 < 0.001 1 2017 2017
dbSNP: rs1726801
rs1726801
POLD1
4 0.851 0.080 19 50401817 missense variant G/A snv 0.11 0.14 0.010 1.000 1 2014 2014
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs587779287
rs587779287
MSH6 ; FBXO11
5 0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins 0.010 1.000 1 2014 2014
dbSNP: rs2020912
rs2020912
MSH6 ; FBXO11
7 0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03 0.010 1.000 1 2018 2018