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: rs147961867
rs147961867
MAPK3
3 0.882 0.120 16 30121998 missense variant T/C snv 5.6E-05 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs1516982
rs1516982
LINC00824
3 0.882 0.120 8 128521400 intron variant A/G snv 0.16 0.010 1.000 1 2012 2012
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: rs185229225
rs185229225
BOD1L1
4 0.851 0.120 4 13607505 intron variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs186724
rs186724
AHCYL1
3 0.882 0.120 1 110018293 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2191249
rs2191249
BRIP1
3 0.882 0.120 17 61758503 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs2228026
rs2228026
TEP1
3 0.882 0.120 14 20395890 synonymous variant A/G snv 4.7E-02 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2287497
rs2287497
TP53 ; WRAP53
3 0.882 0.120 17 7689462 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs2287498
rs2287498
TP53 ; WRAP53
4 0.882 0.120 17 7689242 synonymous variant C/T snv 0.13 0.14 0.010 1.000 1 2013 2013
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: rs2708861
rs2708861
HUS1
6 0.851 0.120 7 47977120 intron variant T/G snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs34289250
rs34289250
BRIP1
2 0.925 0.120 17 61803285 intron variant T/C snv 7.8E-03 0.700 1.000 1 2011 2011
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: rs35068177
rs35068177
ABCB1
3 0.882 0.120 7 87550213 synonymous variant T/C snv 2.2E-04 3.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs351771
rs351771
APC
3 0.882 0.120 5 112828864 synonymous variant G/A snv 0.65 0.59 0.010 1.000 1 2014 2014
dbSNP: rs367899983
rs367899983
BNC2
2 1.000 0.120 9 16864524 intron variant GTCT/- delins 4.2E-05 0.700 1.000 1 2009 2009
dbSNP: rs3976507
rs3976507
PIK3CA ; KCNMB3
3 0.882 0.120 3 179239995 3 prime UTR variant C/T snv 0.19 0.24 0.010 1.000 1 2019 2019
dbSNP: rs4445329
rs4445329 		1 1.000 0.120 9 16911759 intergenic variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs4648551
rs4648551
TP73
3 0.882 0.120 1 3716166 intron variant G/A snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs4954956
rs4954956 		3 0.882 0.120 2 138787007 regulatory region variant C/T snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs4961501
rs4961501
BNC2
1 1.000 0.120 9 16851680 intron variant T/A;C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs4988344
rs4988344
BRIP1
4 0.882 0.120 17 61847251 intron variant G/C snv 0.20 0.15 0.010 1.000 1 2007 2007
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
dbSNP: rs55854959
rs55854959
BRCA2
3 0.882 0.120 13 32330979 missense variant G/A snv 2.4E-05 1.4E-04 0.010 1.000 1 2010 2010
dbSNP: rs567534295
rs567534295
BRCA1
3 0.882 0.120 17 43048090 intron variant C/T snv 2.8E-05 0.010 1.000 1 2020 2020