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: rs28897672
rs28897672
BRCA1
9 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.870 1.000 0 2004 2019
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 0.810 0.833 0 2002 2014
dbSNP: rs55770810
rs55770810
BRCA1
7 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.810 1.000 0 2004 2014
dbSNP: rs41293455
rs41293455
BRCA1
6 0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 0.800 1.000 0 1994 2017
dbSNP: rs80357389
rs80357389
BRCA1
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 0 1994 2017
dbSNP: rs80356898
rs80356898
BRCA1
9 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.710 1.000 0 2003 2003
dbSNP: rs80357382
rs80357382
BRCA1
7 0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 0.710 1.000 0 2008 2008
dbSNP: rs80357906
rs80357906
BRCA1
7 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.710 < 0.001 0 2019 2019
dbSNP: rs1555580883
rs1555580883
BRCA1
1 1.000 0.080 17 43071096 frameshift variant T/- delins 0.700 0
dbSNP: rs1800747
rs1800747
BRCA1
5 0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv 0.700 0
dbSNP: rs273899698
rs273899698
BRCA1
5 0.851 0.080 17 43092434 stop gained C/A;T snv 0.700 0
dbSNP: rs273900730
rs273900730
BRCA1
4 0.882 0.200 17 43076579 frameshift variant TAG/AA delins 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 0
dbSNP: rs387906563
rs387906563
BRCA1
4 0.882 0.200 17 43094706 frameshift variant -/GCTCCACATG delins 6.0E-05; 4.0E-06 0.700 0
dbSNP: rs397507218
rs397507218
BRCA1
3 0.925 0.080 17 43091759 frameshift variant CC/G delins 0.700 0
dbSNP: rs397509067
rs397509067
BRCA1
4 0.882 0.200 17 43092092 frameshift variant AAAC/- delins 0.700 0
dbSNP: rs397509312
rs397509312
BRCA1
3 0.882 0.200 17 43094794 frameshift variant A/- delins 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: rs431825390
rs431825390
BRCA1
3 0.925 0.080 17 43093198 frameshift variant -/CA delins 4.0E-06 0.700 0
dbSNP: rs587781258
rs587781258
BRCA1
2 0.925 0.080 17 43057124 frameshift variant T/- delins 0.700 0
dbSNP: rs62625307
rs62625307
BRCA1
6 0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs62625308
rs62625308
BRCA1
6 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 0
dbSNP: rs730881439
rs730881439
BRCA1
2 0.925 0.080 17 43092593 frameshift variant T/- del 0.700 0
dbSNP: rs730881473
rs730881473
BRCA1
3 0.925 0.080 17 43093817 stop gained C/A;G;T snv 0.700 0
dbSNP: rs80356880
rs80356880
BRCA1
5 0.851 0.080 17 43115750 missense variant G/C;T snv 0.700 0