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: rs1799950
rs1799950
BRCA1
13 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 0.030 1.000 3 1999 2018
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: rs748876625
rs748876625
BRCA1
10 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.020 1.000 2 2003 2012
dbSNP: rs786203319
rs786203319
BRCA1
6 0.827 0.160 17 43115759 missense variant G/A snv 0.020 0.500 2 2007 2010
dbSNP: rs80357750
rs80357750
BRCA1
8 0.790 0.200 17 43115759 frameshift variant G/- delins 0.020 0.500 2 2007 2010
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.020 1.000 2 1999 2009
dbSNP: rs886039920
rs886039920
BRCA1
7 0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 0.020 0.500 2 2007 2010
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: rs1800709
rs1800709
BRCA1
6 0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03 0.010 1.000 1 1996 1996
dbSNP: rs190900046
rs190900046
BRCA1
5 0.827 0.160 17 43104197 synonymous variant A/C snv 8.0E-06 4.2E-05 0.010 1.000 1 2014 2014
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 0.010 1.000 1 1996 1996
dbSNP: rs41293459
rs41293459
BRCA1
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.010 1.000 1 2012 2012
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: rs80356897
rs80356897
BRCA1
5 0.827 0.160 17 43099853 missense variant A/G snv 0.010 1.000 1 2019 2019
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: rs80357138
rs80357138
BRCA1
9 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs80357268
rs80357268
BRCA1
6 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs80357327
rs80357327
BRCA1
6 0.827 0.200 17 43115730 missense variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs80357517
rs80357517
BRCA1
5 0.827 0.200 17 43092277 frameshift variant -/T delins 0.010 1.000 1 2015 2015
dbSNP: rs876660702
rs876660702
BRCA1
4 0.851 0.160 17 43063333 splice region variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs879255288
rs879255288
BRCA1
3 0.882 0.120 17 43094789 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1800726
rs1800726
BRCA1
1 1.000 0.120 17 43070993 missense variant C/G;T snv 0.700 0
dbSNP: rs1800751
rs1800751
BRCA1
5 0.851 0.160 17 43047676 missense variant G/A;C snv 4.0E-06 0.700 0