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: rs397509019
rs397509019
BRCA1
3 0.882 0.080 17 43092674 frameshift variant AA/- delins 0.010 1.000 1 2008 2008
dbSNP: rs397509171
rs397509171
BRCA1
4 0.851 0.200 17 43076573 stop gained G/A snv 0.010 < 0.001 1 2005 2005
dbSNP: rs397509205
rs397509205
BRCA1
5 0.882 0.080 17 43070984 stop gained C/A snv 0.010 1.000 1 2009 2009
dbSNP: rs431825395
rs431825395
BRCA1
2 0.925 0.080 17 43092125 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs431825416
rs431825416
BRCA1
2 0.925 0.080 17 43051093 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs4986850
rs4986850
BRCA1
4 0.851 0.080 17 43093454 missense variant C/A;T snv 5.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs4986854
rs4986854
BRCA1
2 0.925 0.080 17 43071031 missense variant A/G snv 1.5E-03 9.6E-04 0.010 1.000 1 2004 2004
dbSNP: rs55906931
rs55906931
BRCA1
2 0.925 0.080 17 43094075 missense variant A/G;T snv 2.8E-04; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs56012641
rs56012641
BRCA1
2 0.925 0.080 17 43093883 missense variant T/G snv 2.6E-04 2.9E-04 0.010 1.000 1 2006 2006
dbSNP: rs56187033
rs56187033
BRCA1
4 0.851 0.200 17 43099786 missense variant T/C snv 2.6E-04 2.9E-04 0.010 1.000 1 2006 2006
dbSNP: rs730881446
rs730881446
BRCA1
2 0.925 0.080 17 43049149 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs730881496
rs730881496
BRCA1
2 0.925 0.080 17 43063340 missense variant A/T snv 0.010 1.000 1 2003 2003
dbSNP: rs730881500
rs730881500
BRCA1
3 0.882 0.080 17 43045769 missense variant G/A snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs754763517
rs754763517
BRCA1 ; NBR2
2 0.925 0.080 17 43124091 synonymous variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs777515082
rs777515082
BRCA1
2 0.925 0.080 17 43099811 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs786202998
rs786202998
BRCA1
5 0.851 0.080 17 43091030 stop gained C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs786203319
rs786203319
BRCA1
6 0.827 0.160 17 43115759 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs786203671
rs786203671
BRCA1
2 0.925 0.080 17 43094025 synonymous variant T/C snv 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs786203965
rs786203965
BRCA1
2 0.925 0.080 17 43093612 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs799923
rs799923
BRCA1
2 0.925 0.080 17 43099914 intron variant G/A;C;T snv 0.17 0.16 0.010 1.000 1 2017 2017
dbSNP: rs80356881
rs80356881
BRCA1
3 0.882 0.080 17 43074454 stop gained G/A;C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs80356886
rs80356886
BRCA1
2 0.925 0.080 17 43091520 missense variant G/C snv 0.010 1.000 1 2004 2004
dbSNP: rs80356897
rs80356897
BRCA1
5 0.827 0.160 17 43099853 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs80356914
rs80356914
BRCA1
4 0.851 0.200 17 43045759 stop gained C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs80356932
rs80356932
BRCA1
5 0.851 0.200 17 43076600 stop gained G/A snv 0.010 1.000 1 2019 2019