Gene: BRCA1 ×
Source: CLINVAR ×
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: rs80357089
rs80357089
BRCA1
2 0.925 0.200 17 43092200 stop gained G/A snv 4.0E-04; 4.0E-06 0.700 1.000 2 2000 2005
dbSNP: rs80357410
rs80357410
BRCA1 ; NBR2
2 0.925 0.200 17 43124027 missense variant A/G snv 2.3E-04 0.700 1.000 6 2004 2015
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 13 1994 2015
dbSNP: rs80357906
rs80357906
BRCA1
7 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 1.000 15 1994 2013
dbSNP: rs80356923
rs80356923
BRCA1
4 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 0.710 1.000 10 1996 2014
dbSNP: rs80356991
rs80356991
BRCA1
4 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.700 1.000 13 1997 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 6 1998 2012
dbSNP: rs55650082
rs55650082
BRCA1
2 0.925 0.200 17 43093742 stop gained C/A;T snv 8.0E-05 0.700 0
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 12 1997 2017
dbSNP: rs80357501
rs80357501
BRCA1
1 1.000 0.200 17 43063350 stop gained T/A;C snv 5.2E-05 0.700 0
dbSNP: rs80357514
rs80357514
BRCA1
2 0.925 0.200 17 43094289 frameshift variant -/T delins 4.8E-05 0.700 0
dbSNP: rs80356860
rs80356860
BRCA1
3 0.882 0.200 17 43063909 missense variant C/G;T snv 4.8E-05 0.700 1.000 16 2000 2016
dbSNP: rs80357432
rs80357432
BRCA1
2 0.925 0.200 17 43057069 stop gained C/A;G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs28897672
rs28897672
BRCA1
9 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 1.000 34 1994 2013
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: rs80356898
rs80356898
BRCA1
9 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: rs80356915
rs80356915
BRCA1
2 0.925 0.200 17 43094198 stop gained C/A;G snv 2.8E-05 0.700 0
dbSNP: rs80357948
rs80357948
BRCA1
2 0.925 0.200 17 43092918 frameshift variant -/A ins 2.8E-05 0.700 0
dbSNP: rs28897696
rs28897696
BRCA1
5 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: rs55770810
rs55770810
BRCA1
7 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 1.000 16 2001 2017
dbSNP: rs41293459
rs41293459
BRCA1
4 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.700 1.000 33 2001 2019
dbSNP: rs397508902
rs397508902
BRCA1
2 0.925 0.200 17 43093808 stop gained C/A;T snv 2.0E-05 0.700 1.000 1 2018 2018
dbSNP: rs397509131
rs397509131
BRCA1
2 0.925 0.200 17 43091481 frameshift variant -/C delins 1.6E-05 0.700 0
dbSNP: rs80357856
rs80357856
BRCA1
3 0.925 0.200 17 43092478 frameshift variant -/CTCAT delins 1.6E-05 0.700 1.000 8 1996 2014