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: rs81002853
rs81002853
BRCA2
2 1.000 13 32326240 splice acceptor variant A/C;G snv 0.700 1.000 7 2007 2016
dbSNP: rs276174913
rs276174913
BRCA2
1 1.000 13 32379431 stop gained C/T snv 4.0E-06 0.700 1.000 4 2008 2015
dbSNP: rs397507320
rs397507320
BRCA2
1 1.000 13 32325155 stop gained T/A snv 0.700 1.000 3 2008 2016
dbSNP: rs397507858
rs397507858
BRCA2
2 1.000 13 32340801 frameshift variant -/TA delins 0.700 1.000 3 2002 2014
dbSNP: rs80359080
rs80359080
BRCA2
1 1.000 13 32370433 stop gained G/A;C;T snv 0.700 1.000 3 2008 2015
dbSNP: rs80359421
rs80359421
BRCA2
2 1.000 13 32338392 frameshift variant CT/- del 0.700 1.000 3 1999 2008
dbSNP: rs81002883
rs81002883
BRCA2
1 1.000 13 32380146 splice donor variant G/A;C snv 0.700 1.000 3 2003 2013
dbSNP: rs397507406
rs397507406
BRCA2
2 1.000 13 32371013 frameshift variant GAAG/- delins 0.700 1.000 2 2011 2015
dbSNP: rs397508009
rs397508009
BRCA2
1 1.000 13 32332358 stop gained G/T snv 7.0E-06 0.700 1.000 2 2011 2012
dbSNP: rs80358648
rs80358648
BRCA2
2 1.000 13 32338322 stop gained A/T snv 7.0E-06 0.700 1.000 2 2006 2015
dbSNP: rs80358767
rs80358767
BRCA2
2 1.000 13 32339789 stop gained G/A;T snv 4.0E-06 0.700 1.000 2 2002 2012
dbSNP: rs80359564
rs80359564
BRCA2
1 1.000 13 32340552 frameshift variant TT/-;T delins 0.700 1.000 2 1997 1998
dbSNP: rs80359637
rs80359637
BRCA2
2 1.000 13 32319078 frameshift variant TAGGACCAATAAGTCTTAATTGGTTT/- delins 0.700 1.000 2 1997 2011
dbSNP: rs276174915
rs276174915
BRCA2
2 1.000 13 32379507 splice donor variant ATTCAGGTAAG/- delins 0.700 1.000 1 2015 2015
dbSNP: rs397507303
rs397507303
BRCA2
2 1.000 13 32319326 splice donor variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs397507357
rs397507357
BRCA2
2 1.000 13 32339986 frameshift variant C/- del 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs397507997
rs397507997
BRCA2
2 1.000 13 32371101 splice donor variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs786203660
rs786203660
BRCA2
2 1.000 13 32340812 frameshift variant C/- delins 0.700 1.000 1 2015 2015
dbSNP: rs786204280
rs786204280
BRCA2
2 1.000 13 32354860 splice acceptor variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs80358631
rs80358631
BRCA2
1 1.000 13 32338226 stop gained C/T snv 5.2E-06 0.700 1.000 1 2008 2008
dbSNP: rs80359026
rs80359026
BRCA2
2 1.000 13 32362692 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs80359068
rs80359068
BRCA2
2 1.000 13 32332296 stop gained C/A;G;T snv 4.1E-06 0.700 1.000 1 2003 2003
dbSNP: rs80359170
rs80359170
BRCA2
2 1.000 13 32380037 stop gained C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs80359329
rs80359329
BRCA2
2 1.000 13 32336786 frameshift variant A/-;AA delins 0.700 1.000 1 2002 2002
dbSNP: rs80359387
rs80359387
BRCA2
2 1.000 13 32337854 frameshift variant TA/- delins 0.700 1.000 1 2015 2015