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: rs876659602
rs876659602
BRCA2
3 0.882 0.080 13 32337468 missense variant A/G snv 0.020 1.000 2 2013 2016
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: 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: 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: 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: 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: rs80358978
rs80358978
BRCA2
2 0.925 0.080 13 32356514 missense variant G/A snv 1.6E-04 3.5E-05 0.020 1.000 2 2017 2017
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: 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: 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: 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: 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: rs886040340
rs886040340
BRCA2
3 0.882 0.080 13 32319111 frameshift variant -/C delins 0.010 1.000 1 2017 2017
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: rs80359379
rs80359379
BRCA2
2 0.882 0.080 13 32337615 frameshift variant CC/-;C;CCC delins 0.010 1.000 1 2018 2018
dbSNP: rs483353122
rs483353122
BRCA2
2 0.851 0.200 13 32363410 frameshift variant -/AG ins 0.010 1.000 1 2019 2019
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: 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: 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