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: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.710 1.000 2 2016 2016
dbSNP: rs11571818
rs11571818
BRCA2
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs28897749
rs28897749
BRCA2
3 0.882 0.120 13 32363384 missense variant G/A;C snv 2.1E-03; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs398122729
rs398122729
BRCA2
5 0.851 0.240 13 32333120 stop gained C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs41293489
rs41293489
BRCA2
5 0.851 0.240 13 32338566 stop gained C/A;G;T snv 1.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs765436962
rs765436962
BRCA2
4 0.851 0.120 13 32332790 missense variant G/T snv 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs80358814
rs80358814
BRCA2
12 0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06 0.010 1.000 1 2013 2013