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: rs28897672
rs28897672
BRCA1
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 1.000 34 1994 2013
dbSNP: rs41293459
rs41293459
BRCA1
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.700 1.000 33 2001 2019
dbSNP: rs41293463
rs41293463
BRCA1
9 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.700 1.000 30 1994 2014
dbSNP: rs28897696
rs28897696
BRCA1
11 0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 0.700 1.000 28 1994 2016
dbSNP: rs41293455
rs41293455
BRCA1
6 0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 0.700 1.000 28 1994 2013
dbSNP: rs28897743
rs28897743
BRCA2
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 27 1997 2017
dbSNP: rs41293465
rs41293465
BRCA1
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 1.000 26 1996 2016
dbSNP: rs45553935
rs45553935
BRCA1
7 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.700 1.000 26 2004 2019
dbSNP: rs80359013
rs80359013
BRCA2
4 0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 0.700 1.000 23 2002 2019
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 1.000 23 1997 2014
dbSNP: rs28897759
rs28897759
BRCA2
5 0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 22 2000 2017
dbSNP: rs80357150
rs80357150
BRCA1
3 0.925 0.200 17 43106528 missense variant C/A;T snv 0.700 1.000 22 1996 2018
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
7 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 22 1994 2018
dbSNP: rs80356898
rs80356898
BRCA1
11 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 1.000 20 1995 2016
dbSNP: rs80357069
rs80357069
BRCA1
4 0.882 0.200 17 43049164 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 20 1998 2016
dbSNP: rs80357609
rs80357609
BRCA1
5 0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 0.700 1.000 20 1995 2016
dbSNP: rs55851803
rs55851803
BRCA1
3 0.925 0.200 17 43106477 splice donor variant C/G;T snv 0.700 1.000 19 1994 2014
dbSNP: rs80356959
rs80356959
BRCA1
5 0.851 0.200 17 43045761 missense variant A/C;G snv 0.700 1.000 19 1996 2018
dbSNP: rs80357064
rs80357064
BRCA1
4 0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05 0.710 1.000 19 1994 2015
dbSNP: rs80359031
rs80359031
BRCA2
10 0.763 0.320 13 32363190 missense variant A/T snv 0.700 1.000 19 2000 2017
dbSNP: rs80359198
rs80359198
BRCA2
4 0.882 0.200 13 32394717 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 7.6E-05 0.700 1.000 19 1996 2018
dbSNP: rs62625308
rs62625308
BRCA1
8 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 18 1994 2016
dbSNP: rs80357061
rs80357061
BRCA1
4 0.882 0.200 17 43067616 missense variant A/C;G snv 0.700 1.000 18 2003 2016
dbSNP: rs80357268
rs80357268
BRCA1
6 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.700 1.000 18 1998 2016
dbSNP: rs80357701
rs80357701
BRCA1
4 0.925 0.200 17 43092197 frameshift variant GCTT/- delins 0.700 1.000 18 1996 2016