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: rs1060502346
rs1060502346
BRCA1
3 0.925 0.080 17 43106513 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs11655505
rs11655505
BRCA1 ; NBR2
8 0.776 0.160 17 43126360 intron variant G/A snv 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs1216516227
rs1216516227
BRCA1
2 0.925 0.080 17 43094612 missense variant T/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12516
rs12516
BRCA1
4 0.851 0.160 17 43044391 3 prime UTR variant G/A snv 0.34 0.31 0.010 1.000 1 2014 2014
dbSNP: rs1252889664
rs1252889664
BRCA1
2 0.925 0.080 17 43093409 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1296005499
rs1296005499
BRCA1
1 1.000 0.080 17 43045746 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1328261486
rs1328261486
BRCA1
2 0.925 0.080 17 43094258 missense variant A/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1418676444
rs1418676444
BRCA1
2 0.925 0.080 17 43094626 missense variant G/A snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1489545368
rs1489545368
BRCA1
2 0.925 0.080 17 43067643 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs16940
rs16940
BRCA1
5 0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 0.010 1.000 1 2016 2016
dbSNP: rs16941
rs16941
BRCA1
7 0.827 0.240 17 43092418 missense variant T/C;G snv 0.35 0.010 1.000 1 2004 2004
dbSNP: rs1799965
rs1799965
BRCA1
2 0.925 0.080 17 43097246 splice region variant G/A snv 1.5E-03 1.2E-03 0.010 1.000 1 2010 2010
dbSNP: rs1799967
rs1799967
BRCA1
2 0.925 0.080 17 43070958 missense variant C/T snv 1.8E-02 1.4E-02 0.010 1.000 1 2019 2019
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: rs1800744
rs1800744
BRCA1
2 0.925 0.080 17 43074471 missense variant C/A snv 2.4E-03 2.4E-03 0.010 1.000 1 2002 2002
dbSNP: rs1800751
rs1800751
BRCA1
5 0.851 0.160 17 43047676 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs183557525
rs183557525
BRCA1
2 0.925 0.080 17 43115753 missense variant G/T snv 4.0E-06 0.010 1.000 1 2014 2014
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: rs201596327
rs201596327
BRCA1
2 0.925 0.080 17 43095890 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs273898682
rs273898682
BRCA1
2 0.925 0.080 17 43093245 missense variant T/A;C snv 1.4E-04 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs28897680
rs28897680
BRCA1
2 0.925 0.080 17 43093471 missense variant T/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs369982706
rs369982706
BRCA1
2 0.925 0.080 17 43091951 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs3737559
rs3737559
BRCA1
3 0.882 0.120 17 43082287 intron variant C/T snv 6.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs397507242
rs397507242
BRCA1
2 0.925 0.080 17 43063912 missense variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs397508986
rs397508986
BRCA1
9 0.807 0.280 17 43092919 frameshift variant G/AA delins 0.010 1.000 1 2009 2009