Gene: BRCA2 ×
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: rs1057520611
rs1057520611
BRCA2
2 0.925 0.080 13 32356462 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs11571707
rs11571707
BRCA2
7 0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs1334767632
rs1334767632
BRCA2
2 0.925 0.080 13 32332437 missense variant T/C snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs15869
rs15869
BRCA2
3 0.925 0.080 13 32398875 3 prime UTR variant A/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs1799944
rs1799944
BRCA2
5 0.882 0.080 13 32337326 missense variant A/G snv 5.4E-02 4.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs1799955
rs1799955
BRCA2
3 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: rs1801426
rs1801426
BRCA2
3 0.882 0.120 13 32398747 missense variant A/G snv 2.3E-02 3.8E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs1801439
rs1801439
BRCA2
2 0.925 0.080 13 32332843 synonymous variant A/G snv 5.2E-02 3.8E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs206340
rs206340
BRCA2
2 0.925 0.080 13 32391173 intron variant G/A snv 0.21 0.010 1.000 1 2004 2004
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
6 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: rs41293477
rs41293477
BRCA2
5 0.851 0.200 13 32337513 stop gained T/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs483353122
rs483353122
BRCA2
4 0.851 0.200 13 32363410 frameshift variant -/AG ins 0.010 1.000 1 2019 2019
dbSNP: rs4942440
rs4942440
BRCA2
2 0.925 0.080 13 32344830 intron variant G/A snv 0.21 0.010 1.000 1 2012 2012
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: rs80358462
rs80358462
BRCA2
2 0.925 0.080 13 32333271 missense variant C/T snv 4.1E-06; 4.1E-06 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs80358547
rs80358547
BRCA2
5 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
5 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
4 0.882 0.080 13 32326150 missense variant G/A;C snv 0.010 1.000 1 2007 2007
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: 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