Gene: BRCA2 ×
Source: ALL
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: rs1135401927
rs1135401927
BRCA2
4 0.882 0.200 13 32376691 frameshift variant -/A delins 0.700 0
dbSNP: rs11571747
rs11571747
BRCA2
1 1.000 0.080 13 32371035 missense variant A/C snv 1.1E-03 1.5E-03 0.700 0
dbSNP: rs11571769
rs11571769
BRCA2
1 1.000 0.080 13 32379413 missense variant G/A;T snv 9.5E-03 8.2E-03 0.700 0
dbSNP: rs1298550035
rs1298550035
BRCA2
1 1.000 0.080 13 32337673 missense variant C/G snv 4.2E-06 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: rs28897706
rs28897706
BRCA2
1 1.000 0.080 13 32332456 missense variant C/A;G;T snv 8.1E-04 8.1E-04 0.700 0
dbSNP: rs28897708
rs28897708
BRCA2
1 1.000 0.080 13 32332992 missense variant T/C snv 8.0E-04 7.3E-04 0.700 0
dbSNP: rs28897751
rs28897751
BRCA2
1 1.000 0.080 13 32370445 missense variant T/C;G snv 0.700 0
dbSNP: rs28897754
rs28897754
BRCA2
1 1.000 0.080 13 32379412 missense variant G/A;T snv 2.8E-05; 7.4E-04 0.700 0
dbSNP: rs28897755
rs28897755
BRCA2
1 1.000 0.080 13 32379834 missense variant C/T snv 2.5E-04 2.2E-04 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