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: 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: 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: rs876659602
rs876659602
BRCA2
3 0.882 0.080 13 32337468 missense variant A/G snv 0.020 1.000 2 2013 2016
dbSNP: rs1057520611
rs1057520611
BRCA2
2 0.925 0.080 13 32356462 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1799955
rs1799955
BRCA2
2 0.925 0.080 13 32355095 synonymous variant A/G;T snv 0.23; 8.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs28897743
rs28897743
BRCA2
4 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs28897759
rs28897759
BRCA2
2 0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs397507293
rs397507293
BRCA2
2 0.925 0.080 13 32337113 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs397507758
rs397507758
BRCA2
4 0.807 0.200 13 32339456 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs41293475
rs41293475
BRCA2
3 0.882 0.080 13 32332629 missense variant C/G;T snv 7.6E-04 0.010 1.000 1 2005 2005
dbSNP: rs483353122
rs483353122
BRCA2
2 0.851 0.200 13 32363410 frameshift variant -/AG ins 0.010 1.000 1 2019 2019
dbSNP: rs765436962
rs765436962
BRCA2
4 0.851 0.120 13 32332790 missense variant G/T snv 1.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs786201704
rs786201704
BRCA2
2 0.925 0.080 13 32338618 missense variant T/C;G snv 0.010 1.000 1 2003 2003
dbSNP: rs80358547
rs80358547
BRCA2
2 0.851 0.200 13 32316462 start lost T/A;C;G snv 8.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs80358561
rs80358561
BRCA2
2 0.851 0.200 13 32319323 stop gained T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs80358572
rs80358572
BRCA2
2 0.925 0.080 13 32337617 missense variant C/G;T snv 4.3E-06; 4.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs80358621
rs80358621
BRCA2
2 0.925 0.080 13 32325138 missense variant G/A;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs80358702
rs80358702
BRCA2
2 0.882 0.080 13 32326150 missense variant G/A;C snv 0.010 1.000 1 2007 2007
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: 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