Gene: BRCA1 ×
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: rs11655505
rs11655505
BRCA1 ; NBR2
8 0.776 0.160 17 43126360 intron variant G/A snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs567534295
rs567534295
BRCA1
3 0.882 0.120 17 43048090 intron variant C/T snv 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs80358163
rs80358163
BRCA1
4 0.882 0.200 17 43104968 intron variant T/C snv 0.700 0
dbSNP: rs62625308
rs62625308
BRCA1
8 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 1 2004 2004
dbSNP: rs80356952
rs80356952
BRCA1
9 0.790 0.200 17 43093901 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs80357106
rs80357106
BRCA1
6 0.827 0.200 17 43092212 stop gained C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs80357115
rs80357115
BRCA1
8 0.790 0.200 17 43092597 stop gained A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs80357234
rs80357234
BRCA1
4 0.882 0.200 17 43104949 stop gained G/A;T snv 0.700 1.000 1 2004 2004
dbSNP: rs397507215
rs397507215
BRCA1
3 0.925 0.120 17 43092179 stop gained G/A snv 0.700 0
dbSNP: rs397509071
rs397509071
BRCA1
1 1.000 0.120 17 43104217 stop gained C/A;T snv 0.700 0
dbSNP: rs41293465
rs41293465
BRCA1
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 0
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 0
dbSNP: rs80356904
rs80356904
BRCA1
3 0.882 0.200 17 43093910 stop gained G/A snv 0.700 0
dbSNP: rs80356945
rs80356945
BRCA1
4 0.882 0.200 17 43093193 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs80356953
rs80356953
BRCA1
4 0.851 0.200 17 43074519 stop gained G/C;T snv 0.700 0
dbSNP: rs80356962
rs80356962
BRCA1
8 0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs80356989
rs80356989
BRCA1
4 0.882 0.200 17 43082539 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs80357068
rs80357068
BRCA1
3 0.925 0.120 17 43094338 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs80357134
rs80357134
BRCA1 ; NBR2
3 0.882 0.200 17 43124063 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs80357402
rs80357402
BRCA1
3 0.882 0.200 17 43092263 stop gained G/A snv 0.700 0
dbSNP: rs80357433
rs80357433
BRCA1
5 0.851 0.200 17 43071225 stop gained G/A;C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs80357468
rs80357468
BRCA1
5 0.882 0.200 17 43094415 stop gained C/T snv 0.700 0
dbSNP: rs80357481
rs80357481
BRCA1
5 0.882 0.200 17 43094317 stop gained G/C;T snv 0.700 0
dbSNP: rs28897672
rs28897672
BRCA1
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.730 1.000 3 2006 2010
dbSNP: rs1799950
rs1799950
BRCA1
13 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 0.020 1.000 2 1999 2009