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: rs748876625
rs748876625
BRCA1
10 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.020 1.000 2 2003 2012
dbSNP: rs786203319
rs786203319
BRCA1
6 0.827 0.160 17 43115759 missense variant G/A snv 0.020 0.500 2 2007 2010
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: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.020 1.000 2 2015 2019
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2012 2015
dbSNP: rs886039920
rs886039920
BRCA1
7 0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 0.020 0.500 2 2007 2010
dbSNP: rs1046428
rs1046428
GSTZ1
8 0.776 0.200 14 77327940 missense variant T/A;C snv 4.0E-06; 0.81 0.010 1.000 1 2010 2010
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2007 2007
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2007 2007
dbSNP: rs1057519865
rs1057519865
FOXL2 ; FOXL2NB
15 0.742 0.240 3 138946321 missense variant G/C snv 0.010 1.000 1 2016 2016
dbSNP: rs10756819
rs10756819
BNC2
1 1.000 0.120 9 16858086 intron variant G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs11084033
rs11084033
LOC105372441
4 0.882 0.120 19 50850699 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2013 2013
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: rs1136905
rs1136905
HLA-DRB3 ; HLA-DRB5
3 0.882 0.120 6 32518660 missense variant T/A;C snv 4.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913343
rs121913343
TP53
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs12379687
rs12379687
BNC2
1 1.000 0.120 9 16854369 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1256030
rs1256030
ESR2
6 0.827 0.240 14 64280452 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs12937080
rs12937080
BRIP1
1 1.000 0.120 17 61852376 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1321845532
rs1321845532
TP53
4 0.851 0.160 17 7670685 frameshift variant GG/A;G delins 0.010 1.000 1 2013 2013