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: rs6785617
rs6785617 		4 0.882 0.120 3 172501054 downstream gene variant A/T snv 3.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs3814113
rs3814113 		5 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.720 1.000 4 2009 2013
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs3760396
rs3760396
CCL2
13 0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs67397200
rs67397200 		5 0.827 0.160 19 17290595 upstream gene variant C/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs7246045
rs7246045
CGB5
5 0.882 0.120 19 49042825 upstream gene variant T/G snv 2.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs8037137
rs8037137
RCCD1
8 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs874945
rs874945 		14 0.732 0.240 12 53961667 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2018 2018
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.050 1.000 5 2011 2018
dbSNP: rs267607911
rs267607911
MSH2
8 0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs904571820
rs904571820
ESR1
5 0.851 0.160 6 151842664 start lost A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3020450
rs3020450
ESR2
10 0.807 0.200 14 64301584 splice region variant C/A;T snv 0.020 1.000 2 2018 2019
dbSNP: rs7526063
rs7526063
MTR
3 0.882 0.120 1 236808698 splice region variant C/T snv 3.8E-02 5.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs876660702
rs876660702
BRCA1
4 0.851 0.160 17 43063333 splice region variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2015
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1997 1998
dbSNP: rs80357750
rs80357750
BRCA1
8 0.790 0.200 17 43115759 frameshift variant G/- delins 0.020 0.500 2 2007 2010
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.020 1.000 2 1999 2009
dbSNP: rs886039920
rs886039920
BRCA1
7 0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 0.020 0.500 2 2007 2010
dbSNP: rs1131691022
rs1131691022
TP53
6 0.827 0.160 17 7670685 frameshift variant GG/A;G delins 0.010 1.000 1 2013 2013
dbSNP: rs1321845532
rs1321845532
TP53
4 0.851 0.160 17 7670685 frameshift variant GG/A;G delins 0.010 1.000 1 2013 2013
dbSNP: rs80357517
rs80357517
BRCA1
5 0.827 0.200 17 43092277 frameshift variant -/T delins 0.010 1.000 1 2015 2015
dbSNP: rs1064795649
rs1064795649
BRIP1
2 1.000 0.120 17 61799205 frameshift variant CT/- delins 0.700 0
dbSNP: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
dbSNP: rs587781803
rs587781803
BRCA2
5 0.851 0.200 13 32341169 frameshift variant AAGAG/- delins 0.700 0