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: rs2981578
rs2981578
FGFR2
2 0.925 0.080 10 121580797 intron variant C/A;T snv 0.790 0.909 11 2007 2018
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.100 0.818 11 2004 2015
dbSNP: rs10995190
rs10995190
ZNF365
4 0.882 0.080 10 62518923 intron variant G/A snv 0.16 0.770 1.000 10 2010 2017
dbSNP: rs4415084
rs4415084 		6 0.827 0.080 5 44662413 upstream gene variant C/T snv 0.49 0.790 1.000 10 2008 2018
dbSNP: rs11249433
rs11249433
EMBP1
9 0.827 0.160 1 121538815 intron variant A/C;G snv 0.770 0.778 9 2009 2016
dbSNP: rs2420946
rs2420946
FGFR2
4 0.851 0.160 10 121591810 intron variant T/C snv 0.56 0.770 1.000 9 2007 2017
dbSNP: rs6504950
rs6504950
STXBP4
7 0.807 0.120 17 54979110 intron variant G/A snv 0.29 0.770 0.889 9 2009 2017
dbSNP: rs796065354
rs796065354
ESR1
9 0.882 0.080 6 151944320 missense variant A/G snv 0.760 1.000 9 2000 2013
dbSNP: rs999737
rs999737
RAD51B
8 0.776 0.200 14 68567965 intron variant C/T snv 0.16 0.770 0.889 9 2009 2016
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.750 1.000 8 2011 2019
dbSNP: rs12443621
rs12443621
TOX3
6 0.807 0.120 16 52514125 intron variant A/G snv 0.48 0.770 0.875 8 2007 2016
dbSNP: rs1567206804
rs1567206804
PALB2
1 1.000 0.080 16 23607911 frameshift variant AG/- delins 0.700 1.000 8 2006 2015
dbSNP: rs4784227
rs4784227
CASC16
8 0.807 0.160 16 52565276 intron variant C/T snv 0.20 0.770 1.000 8 2010 2020
dbSNP: rs515726126
rs515726126
PALB2
2 1.000 0.080 16 23635787 frameshift variant -/A delins 1.4E-05 0.700 1.000 8 2012 2017
dbSNP: rs587776428
rs587776428
PALB2
2 1.000 0.080 16 23603512 frameshift variant AG/- delins 0.700 1.000 8 2009 2016
dbSNP: rs8051542
rs8051542
TOX3
2 0.925 0.080 16 52500255 intron variant T/C snv 0.61 0.770 0.875 8 2007 2019
dbSNP: rs10771399
rs10771399 		5 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 0.750 1.000 7 2012 2016
dbSNP: rs137852985
rs137852985
BRIP1
1 1.000 0.080 17 61808488 missense variant C/T snv 0.700 1.000 7 2001 2014
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.070 0.714 7 2009 2019
dbSNP: rs180177127
rs180177127
PALB2
2 1.000 0.080 16 23622982 frameshift variant -/A delins 0.700 1.000 7 2007 2016
dbSNP: rs2981579
rs2981579
FGFR2
8 0.776 0.280 10 121577821 intron variant A/G snv 0.53 0.740 1.000 7 2009 2017
dbSNP: rs587776426
rs587776426
PALB2
2 1.000 0.080 16 23603563 frameshift variant -/T delins 0.700 1.000 7 2009 2016
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.070 0.857 7 2007 2020
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.740 1.000 6 2010 2015
dbSNP: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.060 0.833 6 2004 2016