Gene: BRCA2 ×
Source: BEFREE ×
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: rs80358732
rs80358732
BRCA2
4 0.925 0.080 13 32339451 missense variant A/G snv 2.2E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs80358755
rs80358755
BRCA2
2 0.925 0.080 13 32339667 missense variant G/A;T snv 3.4E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs80358807
rs80358807
BRCA2
2 0.763 0.280 13 32340146 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs80358833
rs80358833
BRCA2
2 0.925 0.080 13 32340341 missense variant G/A;T snv 4.8E-04 0.010 < 0.001 1 2017 2017
dbSNP: rs80359078
rs80359078
BRCA2
2 0.882 0.160 13 32370430 missense variant G/A snv 3.2E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs80359130
rs80359130
BRCA2
4 0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs80359152
rs80359152
BRCA2
2 0.851 0.200 13 32379800 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs80359165
rs80359165
BRCA2
2 0.925 0.080 13 32379900 missense variant A/C;G;T snv 4.8E-05; 2.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs80359182
rs80359182
BRCA2
2 0.925 0.080 13 32319100 missense variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs80359379
rs80359379
BRCA2
2 0.882 0.080 13 32337615 frameshift variant CC/-;C;CCC delins 0.010 1.000 1 2018 2018
dbSNP: rs878853582
rs878853582
BRCA2
2 0.925 0.080 13 32338616 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs886040340
rs886040340
BRCA2
3 0.882 0.080 13 32319111 frameshift variant -/C delins 0.010 1.000 1 2017 2017
dbSNP: rs80358527
rs80358527
BRCA2
2 0.925 0.080 13 32316486 missense variant C/A;G;T snv 8.0E-06 0.020 0.500 2 2006 2009
dbSNP: rs80358829
rs80358829
BRCA2
6 0.827 0.120 13 32340327 missense variant C/T snv 0.020 1.000 2 2005 2015
dbSNP: rs80358978
rs80358978
BRCA2
2 0.925 0.080 13 32356514 missense variant G/A snv 1.6E-04 3.5E-05 0.020 1.000 2 2017 2017
dbSNP: rs876659602
rs876659602
BRCA2
3 0.882 0.080 13 32337468 missense variant A/G snv 0.020 1.000 2 2013 2016
dbSNP: rs11571653
rs11571653
BRCA2
2 0.925 0.080 13 32336705 missense variant A/G snv 2.3E-04 1.7E-04 0.030 1.000 3 2003 2017
dbSNP: rs4987117
rs4987117
BRCA2
4 0.925 0.080 13 32340099 missense variant C/T snv 1.8E-02 1.8E-02 0.030 1.000 3 2005 2019
dbSNP: rs80359065
rs80359065
BRCA2
5 0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04 0.030 1.000 3 2003 2017
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.100 0.923 13 2000 2017
dbSNP: rs11571833
rs11571833
BRCA2
31 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.740 0.875 4 2013 2017