Source: UNIPROT ×
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: rs28897672
rs28897672
BRCA1
2 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.870 1.000 5 2004 2019
dbSNP: rs200928781
rs200928781
CHEK2
1 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.810 1.000 8 2002 2018
dbSNP: rs28897696
rs28897696
BRCA1
1 0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 0.810 0.833 5 2002 2014
dbSNP: rs55770810
rs55770810
BRCA1
3 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.810 1.000 5 2004 2014
dbSNP: rs28897759
rs28897759
BRCA2
1 0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.810 1.000 0 2014 2014
dbSNP: rs41293455
rs41293455
BRCA1
1 0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 0.800 1.000 25 1994 2017
dbSNP: rs45580035
rs45580035
BRCA2
1 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.800 1.000 25 1997 2014
dbSNP: rs80357389
rs80357389
BRCA1
1 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 25 1994 2017
dbSNP: rs41293511
rs41293511
BRCA2
1 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.800 1.000 5 2004 2014
dbSNP: rs121913279
rs121913279
PIK3CA
7 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.800 1.000 1 2006 2019
dbSNP: rs80359014
rs80359014
BRCA2
1 0.763 0.320 13 32362596 missense variant A/G;T snv 0.800 0
dbSNP: rs1213469537
rs1213469537
CAV1
1 0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05 0.780 1.000 0 2002 2013
dbSNP: rs121434592
rs121434592
AKT1
2 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.770 1.000 0 2008 2019
dbSNP: rs104886003
rs104886003
PIK3CA
4 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.760 1.000 1 2006 2019
dbSNP: rs748876625
rs748876625
BRCA1
1 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.740 0.958 20 1994 2017
dbSNP: rs41293459
rs41293459
BRCA1
1 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.730 1.000 20 1994 2019
dbSNP: rs121913273
rs121913273
PIK3CA
5 0.605 0.440 3 179218294 missense variant G/A;C snv 0.730 1.000 0 2014 2019
dbSNP: rs80359065
rs80359065
BRCA2
1 0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04 0.730 1.000 0 2003 2017
dbSNP: rs200595749
rs200595749
ZFYVE26
1 0.925 0.080 14 67766404 missense variant C/T snv 8.8E-05 9.1E-05 0.720 1.000 0 2011 2011
dbSNP: rs41293463
rs41293463
BRCA1
1 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.710 1.000 20 1994 2017
dbSNP: rs55971303
rs55971303
BRCA1
1 0.851 0.120 17 43104138 missense variant G/T snv 1.0E-04 4.2E-05 0.710 1.000 20 1994 2017
dbSNP: rs80356920
rs80356920
BRCA1
1 0.925 0.080 17 43047699 stop gained A/T snv 9.9E-05 2.0E-04 0.710 1.000 20 1994 2017
dbSNP: rs80357090
rs80357090
BRCA1
1 0.882 0.200 17 43097266 missense variant C/T snv 3.0E-04 2.2E-04 0.710 0.952 20 1994 2017
dbSNP: rs80358755
rs80358755
BRCA2
1 0.925 0.080 13 32339667 missense variant G/A;T snv 3.4E-04; 4.0E-06 0.710 1.000 20 1997 2016
dbSNP: rs121917739
rs121917739
RAD51
1 0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03 0.710 1.000 7 2000 2015