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: rs80356959
rs80356959
BRCA1
5 0.851 0.200 17 43045761 missense variant A/C;G snv 0.700 1.000 24 1996 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: 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: rs80357389
rs80357389
BRCA1
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 19 2003 2018
dbSNP: rs80357446
rs80357446
BRCA1
6 0.827 0.200 17 43115729 missense variant C/A;T snv 0.700 1.000 19 2001 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: rs80357123
rs80357123
BRCA1
7 0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05 0.700 1.000 17 1997 2017
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: rs80357276
rs80357276
BRCA1
3 0.925 0.200 17 43115738 missense variant T/A;C snv 0.700 1.000 15 2001 2015
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: 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: rs41293463
rs41293463
BRCA1
9 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.700 1.000 14 1994 2017
dbSNP: rs55851803
rs55851803
BRCA1
3 0.925 0.200 17 43106477 splice donor variant C/G;T snv 0.700 1.000 14 2000 2018
dbSNP: rs80357034
rs80357034
BRCA1
5 0.882 0.200 17 43067610 missense variant G/A;C;T snv 0.700 1.000 14 2001 2017
dbSNP: rs80357258
rs80357258
BRCA1
2 1.000 0.200 17 43045712 missense variant T/C snv 0.700 1.000 14 2003 2016
dbSNP: rs1800751
rs1800751
BRCA1
5 0.851 0.160 17 43047676 missense variant G/A;C snv 4.0E-06 0.700 1.000 13 2003 2018
dbSNP: rs80356880
rs80356880
BRCA1
5 0.851 0.080 17 43115750 missense variant G/C;T snv 0.700 1.000 13 2001 2015
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 13 1998 2016
dbSNP: rs80357112
rs80357112
BRCA1
4 0.882 0.080 17 43051063 missense variant C/A;G;T snv 0.700 1.000 13 2004 2016
dbSNP: rs80358027
rs80358027
BRCA1
3 0.925 0.200 17 43082403 splice donor variant C/A;G;T snv 4.0E-06 0.700 1.000 13 2004 2016
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: rs80357164
rs80357164
BRCA1
5 0.851 0.200 17 43115745 missense variant A/C;G;T snv 0.700 1.000 12 2003 2016
dbSNP: rs80358044
rs80358044
BRCA1
7 0.827 0.200 17 43074330 splice donor variant C/A;G;T snv 0.700 1.000 12 2001 2017
dbSNP: rs80358083
rs80358083
BRCA1
3 0.925 0.200 17 43106453 splice region variant T/A;C snv 7.0E-06 0.700 1.000 12 1997 2014
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