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: 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: 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: 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: 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: rs878853582
rs878853582
BRCA2
2 0.925 0.080 13 32338616 missense variant T/C snv 0.010 1.000 1 2003 2003
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: 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: 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: rs483353122
rs483353122
BRCA2
2 0.851 0.200 13 32363410 frameshift variant -/AG ins 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: rs886040340
rs886040340
BRCA2
3 0.882 0.080 13 32319111 frameshift variant -/C delins 0.010 1.000 1 2017 2017
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