Gene: BRCA2 ×
Source: INFERRED ×
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: rs28897759
rs28897759
BRCA2
4 0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.810 1.000 0 2014 2014
dbSNP: rs41293511
rs41293511
BRCA2
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.800 1.000 0 2004 2014
dbSNP: rs45580035
rs45580035
BRCA2
8 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.800 1.000 0 1997 2014
dbSNP: rs80359014
rs80359014
BRCA2
10 0.763 0.320 13 32362596 missense variant A/G;T snv 0.800 0
dbSNP: rs11571833
rs11571833
BRCA2
21 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.740 0.800 1 2013 2016
dbSNP: rs28897743
rs28897743
BRCA2
5 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.710 1.000 0 2020 2020
dbSNP: rs80358807
rs80358807
BRCA2
9 0.763 0.280 13 32340146 stop gained C/T snv 0.710 1.000 0 2017 2017
dbSNP: rs1135401927
rs1135401927
BRCA2
4 0.882 0.200 13 32376691 frameshift variant -/A delins 0.700 0
dbSNP: rs1555281715
rs1555281715
BRCA2
1 1.000 0.080 13 32332537 frameshift variant A/- del 0.700 0
dbSNP: rs1555283256
rs1555283256
BRCA2
2 0.925 0.200 13 32337816 frameshift variant C/- delins 0.700 0
dbSNP: rs1555287766
rs1555287766
BRCA2
1 1.000 0.080 13 32371015 frameshift variant G/- delins 0.700 0
dbSNP: rs276174853
rs276174853
BRCA2
4 0.882 0.200 13 32339467 frameshift variant AATA/- delins 0.700 0
dbSNP: rs276174900
rs276174900
BRCA2
4 0.882 0.200 13 32363204 stop gained A/G;T snv 2.0E-05 0.700 0
dbSNP: rs28897756
rs28897756
BRCA2
11 0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs397507327
rs397507327
BRCA2
9 0.776 0.280 13 32338598 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs397507389
rs397507389
BRCA2
4 0.882 0.200 13 32357741 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs397507404
rs397507404
BRCA2
10 0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs397507411
rs397507411
BRCA2
4 0.882 0.200 13 32376732 stop gained C/T snv 0.700 0
dbSNP: rs397507419
rs397507419
BRCA2
7 0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06 0.700 0
dbSNP: rs397507586
rs397507586
BRCA2
3 0.925 0.080 13 32332878 frameshift variant GA/- delins 0.700 0
dbSNP: rs397507637
rs397507637
BRCA2
3 0.882 0.200 13 32337056 frameshift variant C/- del 0.700 0
dbSNP: rs397507787
rs397507787
BRCA2
3 0.925 0.080 13 32339912 frameshift variant GT/- delins 0.700 0
dbSNP: rs397508045
rs397508045
BRCA2
9 0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs397508058
rs397508058
BRCA2
3 0.882 0.200 13 32394934 splice donor variant G/A;T snv 0.700 0
dbSNP: rs397515636
rs397515636
BRCA2
4 0.882 0.200 13 32338329 frameshift variant -/TGCT delins 0.700 0