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: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 0.667 3 2014 2015
dbSNP: rs137853011
rs137853011
CHEK2
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.010 1.000 1 2019 2019
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 1 2006 2006
dbSNP: rs1805129
rs1805129
CHEK2
3 0.882 0.120 22 28734470 synonymous variant T/C snv 3.6E-02 4.0E-02 0.010 1.000 1 2004 2004
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 2015 2015
dbSNP: rs587780191
rs587780191
CHEK2
3 0.882 0.120 22 28699931 missense variant T/C;G snv 4.0E-06; 1.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs74315464
rs74315464
ARSA
4 0.882 0.120 22 50627048 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs751039340
rs751039340
ARSA
3 0.882 0.120 22 50625459 missense variant C/A snv 4.2E-06 0.010 1.000 1 2015 2015
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2004 2004
dbSNP: rs2424913
rs2424913
DNMT3B
18 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 0.010 1.000 1 2013 2013
dbSNP: rs2424932
rs2424932
DNMT3B
5 0.827 0.200 20 32808730 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs67164370
rs67164370
RASSF2
4 0.851 0.120 20 4787830 intron variant -/AGGGACT ins 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 0.040 0.750 4 2013 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 1.000 3 2013 2018
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.020 1.000 2 2013 2015
dbSNP: rs2363956
rs2363956
ANKLE1
8 0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 0.710 1.000 2 2010 2012
dbSNP: rs387906659
rs387906659
AKT2
14 0.742 0.280 19 40257052 stop gained C/A;T snv 0.020 1.000 2 2007 2008
dbSNP: rs11084033
rs11084033
LOC105372441
4 0.882 0.120 19 50850699 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1469713
rs1469713
GATAD2A
7 0.827 0.160 19 19417997 intron variant A/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs2228611
rs2228611
DNMT1
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2013 2013
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2017 2017
dbSNP: rs266851
rs266851
KLK15 ; LOC105372441
3 0.882 0.120 19 50833083 intron variant C/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs34529039
rs34529039
CEBPA ; CEBPA-DT
3 0.882 0.120 19 33301725 synonymous variant C/A snv 0.19 0.16 0.010 1.000 1 2016 2016
dbSNP: rs540432391
rs540432391
CGB5
5 0.882 0.120 19 49043993 5 prime UTR variant G/A;C snv 0.010 1.000 1 2017 2017