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: 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: rs4987188
rs4987188
MSH2
11 0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 0.020 1.000 2 2015 2020
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: rs1042821
rs1042821
MSH6
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.010 1.000 1 2014 2014
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2015 2015
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2015 2015
dbSNP: rs1064793184
rs1064793184
MSH6 ; FBXO11
4 0.851 0.080 2 47791055 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1064793309
rs1064793309
BRCA1
2 0.925 0.080 17 43063889 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1114167795
rs1114167795
MSH6 ; FBXO11
4 0.851 0.080 2 47799482 missense variant C/T snv 0.010 1.000 1 2014 2014
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: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12662670
rs12662670
CCDC170
4 0.851 0.080 6 151597721 intron variant T/C;G snv 0.010 1.000 1 2011 2011
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 2014 2014
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs141366047
rs141366047
PRKN
3 0.882 0.120 6 161785829 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 9.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs142030651
rs142030651
EP300
4 0.851 0.080 22 41117723 missense variant G/A;C snv 6.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs144567652
rs144567652
FANCM
8 0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs1485579458
rs1485579458
ERBB2
4 0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs17217772
rs17217772
MSH2
10 0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 0.010 1.000 1 2015 2015
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: rs200928781
rs200928781
CHEK2
11 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.010 1.000 1 2018 2018
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
dbSNP: rs2077197
rs2077197
PARP1
2 0.925 0.080 1 226408338 upstream gene variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2249825
rs2249825
HMGB1
23 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2018 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