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: rs81002899
rs81002899
BRCA2
5 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 1.000 12 2000 2016
dbSNP: rs11571707
rs11571707
BRCA2
7 0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs28897746
rs28897746
BRCA2
2 1.000 0.120 13 32363259 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs786202344
rs786202344
BRCA2
1 1.000 0.120 13 32357926 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs80358638
rs80358638
BRCA2
9 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs80359065
rs80359065
BRCA2
5 0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04 0.010 1.000 1 2003 2003
dbSNP: rs80359130
rs80359130
BRCA2
5 0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs80359183
rs80359183
BRCA2
4 0.882 0.120 13 32380096 stop gained T/A;C snv 0.010 1.000 1 2003 2003