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: rs28897689
rs28897689
BRCA1
2 1.000 0.200 17 43091492 stop gained T/A;C snv 3.8E-03 4.1E-03 0.700 0
dbSNP: rs28897686
rs28897686
BRCA1
4 0.882 0.200 17 43091783 stop gained C/A;T snv 8.0E-06; 2.0E-04 0.700 1.000 6 1994 2017
dbSNP: rs80357906
rs80357906
BRCA1
8 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 1.000 14 1994 2016
dbSNP: rs80356923
rs80356923
BRCA1
5 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 0.700 1.000 6 1996 2014
dbSNP: rs80356991
rs80356991
BRCA1
6 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.700 1.000 9 2002 2016
dbSNP: rs80357902
rs80357902
BRCA1
4 0.882 0.200 17 43091882 frameshift variant -/T delins 4.0E-06; 8.4E-05; 4.0E-06 0.700 1.000 4 1998 2012
dbSNP: rs387906563
rs387906563
BRCA1
4 0.882 0.200 17 43094706 frameshift variant -/GCTCCACATG delins 6.0E-05; 4.0E-06 0.700 1.000 8 1997 2017
dbSNP: rs80356860
rs80356860
BRCA1
4 0.882 0.200 17 43063909 missense variant C/G;T snv 4.8E-05 0.700 1.000 21 2000 2016
dbSNP: rs80357442
rs80357442
BRCA1
1 17 43057077 missense variant C/A;G;T snv 3.6E-05 0.700 1.000 7 2003 2011
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 11 2006 2017
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 14 2005 2017
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 18 1995 2018
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 14 2001 2017
dbSNP: rs55770810
rs55770810
BRCA1
10 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 1.000 12 2001 2017
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 7 2012 2018
dbSNP: rs397507206
rs397507206
BRCA1
2 1.000 17 43092568 stop gained G/A;T snv 1.6E-05 0.700 1.000 2 2003 2014
dbSNP: rs80357856
rs80357856
BRCA1
3 0.925 0.200 17 43092478 frameshift variant -/CTCAT delins 1.6E-05 0.700 1.000 8 1995 2016
dbSNP: rs80357006
rs80357006
BRCA1
4 0.925 0.200 17 43092274 stop gained A/C;G;T snv 1.2E-05 0.700 1.000 7 1998 2015
dbSNP: rs748876625
rs748876625
BRCA1
10 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.700 0
dbSNP: rs80357064
rs80357064
BRCA1
4 0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05 0.700 1.000 16 1994 2015
dbSNP: rs80358061
rs80358061
BRCA1
4 0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06 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 7 1994 2017
dbSNP: rs80358189
rs80358189
BRCA1
6 0.827 0.200 17 43074522 splice acceptor variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs41293465
rs41293465
BRCA1
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 1.000 19 1996 2017
dbSNP: rs80187739
rs80187739
BRCA1
5 0.851 0.200 17 43067608 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 8 2004 2016