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: rs80359035
rs80359035
BRCA2
4 0.882 0.200 13 32363211 stop gained C/A;G;T snv 0.700 1.000 18 2004 2017
dbSNP: rs80359152
rs80359152
BRCA2
5 0.851 0.200 13 32379800 missense variant G/A snv 0.700 1.000 14 2008 2015
dbSNP: rs28897743
rs28897743
BRCA2
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 13 2002 2019
dbSNP: rs397507954
rs397507954
BRCA2
3 0.925 0.200 13 32363225 missense variant A/G snv 4.0E-06 0.700 1.000 13 2008 2019
dbSNP: rs41293513
rs41293513
BRCA2
4 0.882 0.200 13 32363370 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 13 2007 2017
dbSNP: rs80358871
rs80358871
BRCA2
3 0.925 0.200 13 32326613 missense variant G/A;C snv 0.700 1.000 10 2003 2016
dbSNP: rs80359071
rs80359071
BRCA2
6 0.882 0.200 13 32363445 missense variant G/A snv 8.0E-06 0.700 1.000 10 2004 2016
dbSNP: rs81002823
rs81002823
BRCA2
3 0.925 0.200 13 32354859 splice acceptor variant A/G;T snv 0.700 1.000 10 2009 2019
dbSNP: rs80358711
rs80358711
BRCA2
3 0.925 0.200 13 32339244 stop gained C/A;G;T snv 8.0E-06 0.700 1.000 9 2000 2014
dbSNP: rs80359013
rs80359013
BRCA2
4 0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 0.700 1.000 9 2002 2016
dbSNP: rs80358972
rs80358972
BRCA2
12 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 1.000 8 1997 2015
dbSNP: rs41293511
rs41293511
BRCA2
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.700 1.000 7 2007 2014
dbSNP: rs80358650
rs80358650
BRCA2
3 0.925 0.200 13 32316463 start lost G/A;T snv 0.700 1.000 7 2008 2019
dbSNP: rs80359014
rs80359014
BRCA2
10 0.763 0.320 13 32362596 missense variant A/G;T snv 0.700 1.000 7 2007 2015
dbSNP: rs80359200
rs80359200
BRCA2
12 0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06 0.700 1.000 7 1998 2016
dbSNP: rs81002853
rs81002853
BRCA2
2 1.000 13 32326240 splice acceptor variant A/C;G snv 0.700 1.000 7 2007 2016
dbSNP: rs81002893
rs81002893
BRCA2
3 0.925 0.200 13 32376795 splice region variant A/G;T snv 0.700 1.000 7 2006 2016
dbSNP: rs28897759
rs28897759
BRCA2
5 0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 6 2010 2019
dbSNP: rs45580035
rs45580035
BRCA2
8 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 1.000 6 2008 2015
dbSNP: rs80358721
rs80358721
BRCA2
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.700 1.000 6 2007 2014
dbSNP: rs80358815
rs80358815
BRCA2
3 0.925 0.200 13 32340219 stop gained C/A;G;T snv 1.2E-05 0.700 1.000 6 2002 2016
dbSNP: rs80358928
rs80358928
BRCA2
3 0.925 0.200 13 32354877 stop gained C/T snv 4.0E-06 0.700 1.000 6 2002 2017
dbSNP: rs81002858
rs81002858
BRCA2
3 0.925 0.200 13 32326497 splice acceptor variant A/C;G snv 0.700 1.000 6 2003 2019
dbSNP: rs81002897
rs81002897
BRCA2
4 0.882 0.280 13 32326614 splice donor variant G/A;C snv 0.700 1.000 6 2003 2015
dbSNP: rs81002899
rs81002899
BRCA2
5 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 1.000 6 2000 2019