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: rs3177427
rs3177427
GSTZ1
5 0.827 0.160 14 77326864 stop gained G/A;C;T snv 0.010 1.000 1 2010 2010
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: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs397514606
rs397514606
AKT3
14 0.763 0.320 1 243695714 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs397516436
rs397516436
TP53
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.010 1.000 1 1998 1998
dbSNP: rs41293459
rs41293459
BRCA1
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs4445329
rs4445329 		1 1.000 0.120 9 16911759 intergenic variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs4533622
rs4533622
CTNNB1
6 0.807 0.240 3 41200847 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.010 1.000 1 2014 2014
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: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2010 2010
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: 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: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 1.000 1 2009 2009
dbSNP: rs67164370
rs67164370
RASSF2
4 0.851 0.120 20 4787830 intron variant -/AGGGACT ins 0.010 1.000 1 2011 2011
dbSNP: rs6886
rs6886
CAPG
4 0.925 0.160 2 85394936 missense variant T/A;C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs7365052
rs7365052 		3 0.882 0.120 1 236786561 intergenic variant T/C snv 0.010 1.000 1 2011 2011
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: rs750042441
rs750042441
PGR ; PGR-AS1
5 0.827 0.160 11 101128367 missense variant G/A;C snv 6.1E-05; 4.3E-06 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: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs752742313
rs752742313
PIK3CB
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs755100942
rs755100942
ARL11
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.010 1.000 1 2009 2009
dbSNP: rs755378873
rs755378873
SLC13A5
5 0.851 0.120 17 6694197 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs757210
rs757210
HNF1B
6 0.807 0.160 17 37736525 intron variant C/G;T snv 0.700 1.000 1 2013 2013