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: 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: 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: rs80359182
rs80359182
BRCA2
2 0.925 0.080 13 32319100 missense variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs886040340
rs886040340
BRCA2
3 0.882 0.080 13 32319111 frameshift variant -/C delins 0.010 1.000 1 2017 2017
dbSNP: rs80358561
rs80358561
BRCA2
2 0.851 0.200 13 32319323 stop gained T/G snv 0.010 1.000 1 2004 2004
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs876659602
rs876659602
BRCA2
3 0.882 0.080 13 32337468 missense variant A/G snv 0.020 1.000 2 2013 2016
dbSNP: rs41293477
rs41293477
BRCA2
2 0.851 0.200 13 32337513 stop gained T/G snv 7.0E-06 0.010 1.000 1 2017 2017
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: 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: rs878853582
rs878853582
BRCA2
2 0.925 0.080 13 32338616 missense variant T/C snv 0.010 1.000 1 2003 2003
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: 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: rs397507758
rs397507758
BRCA2
4 0.807 0.200 13 32339456 stop gained C/T snv 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