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: 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: 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: 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: rs397507758
rs397507758
BRCA2
4 0.807 0.200 13 32339456 stop gained C/T snv 0.010 1.000 1 2017 2017
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: rs483353122
rs483353122
BRCA2
2 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: rs786201704
rs786201704
BRCA2
2 0.925 0.080 13 32338618 missense variant T/C;G snv 0.010 1.000 1 2003 2003
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: rs80358807
rs80358807
BRCA2
2 0.763 0.280 13 32340146 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs80359152
rs80359152
BRCA2
2 0.851 0.200 13 32379800 missense variant G/A snv 0.010 1.000 1 2012 2012
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: 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: 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: 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: 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