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: rs997050266
rs997050266
ERCC1
4 0.851 0.120 19 45423352 missense variant T/A;C snv 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.020 1.000 2 2011 2017
dbSNP: rs9904341
rs9904341
BIRC5
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.010 1.000 1 2015 2015
dbSNP: rs9838411
rs9838411
PIK3CA
2 0.925 0.080 3 179169899 intron variant G/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs9668337
rs9668337
SSPN ; LOC105369704 ; LOC105369705
1 1.000 0.080 12 26273405 non coding transcript exon variant G/A snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs9639594
rs9639594
CPVL
1 1.000 0.080 7 29139570 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs9600103
rs9600103 		1 1.000 0.080 13 73237742 intergenic variant A/T snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs944050
rs944050
ESR2
5 0.827 0.280 14 64233327 splice region variant T/C snv 9.5E-02 7.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs937213
rs937213
EIF2AK4
3 1.000 0.080 15 40029923 intron variant T/C snv 0.31 0.700 1.000 2 2016 2018
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.020 1.000 2 2008 2009
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs9261204
rs9261204
ZNRD1ASP
9 0.790 0.200 6 30037466 intron variant A/G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs911162
rs911162
CSTF1 ; AURKA
1 1.000 0.080 20 56391393 intron variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs892119
rs892119
AKT2 ; LOC107985289
2 0.925 0.080 19 40254165 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs889312
rs889312 		14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs887829
rs887829
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
18 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs882380
rs882380
SKAP1
1 1.000 0.080 17 48216874 intron variant C/A snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.080 0.750 8 2005 2014
dbSNP: rs876660943
rs876660943
MSH6 ; FBXO11
5 0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 0.700 0
dbSNP: rs876658932
rs876658932
CDH1
7 0.807 0.400 16 68801726 stop gained C/G;T snv 0.700 0
dbSNP: rs872267
rs872267
EEFSEC
1 1.000 0.080 3 128169224 intron variant G/A snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs864622149
rs864622149
CHEK2
5 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs864622121
rs864622121
MSH2
2 1.000 0.080 2 47475228 frameshift variant GT/- del 0.010 1.000 1 2002 2002
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2012 2012