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: rs587776416
rs587776416
PALB2
5 0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 0.700 1.000 5 2014 2016
dbSNP: rs180177132
rs180177132
PALB2
11 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 1.000 6 2010 2016
dbSNP: rs370228071
rs370228071
RAD51D ; RAD51L3-RFFL
6 0.882 0.200 17 35103501 missense variant G/A;C snv 2.8E-05 2.1E-05 0.700 1.000 6 2011 2017
dbSNP: rs750621215
rs750621215
RAD51D ; RAD51L3-RFFL
3 0.925 0.200 17 35101206 stop gained G/A snv 2.8E-05 2.1E-05 0.700 0
dbSNP: rs80359351
rs80359351
BRCA2
6 0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 0.700 1.000 17 1998 2015
dbSNP: rs770637624
rs770637624
RAD51C
4 0.882 0.200 17 58709862 stop gained C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs80359076
rs80359076
BRCA2
2 0.925 0.200 13 32370421 missense variant G/A;T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs80359525
rs80359525
BRCA2
4 0.882 0.200 13 32339966 frameshift variant AGTAA/- delins 1.4E-05 0.700 1.000 6 2004 2017
dbSNP: rs180177100
rs180177100
PALB2
6 0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 3 2011 2016
dbSNP: rs587782410
rs587782410
BRIP1
4 0.882 0.280 17 61685976 stop gained A/C snv 1.2E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs587779954
rs587779954
MLH1
1 1.000 0.200 3 37040264 missense variant A/G snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs80359322
rs80359322
BRCA2
3 0.925 0.200 13 32336447 frameshift variant C/- del 1.4E-05 0.700 1.000 2 2005 2016
dbSNP: rs786203821
rs786203821
PALB2
3 0.925 0.200 16 23635606 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs80357579
rs80357579
BRCA1
4 0.882 0.200 17 43091760 frameshift variant CT/- delins 1.4E-05 0.700 1.000 8 1995 2013
dbSNP: rs80357433
rs80357433
BRCA1
5 0.851 0.200 17 43071225 stop gained G/A;C snv 4.0E-06 1.4E-05 0.700 1.000 6 1996 2016
dbSNP: rs80359492
rs80359492
BRCA2
3 0.925 0.200 13 32326498 splice region variant G/- delins 1.4E-05 0.700 1.000 7 2008 2017
dbSNP: rs80358981
rs80358981
BRCA2
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 1.000 16 1997 2015
dbSNP: rs80357848
rs80357848
BRCA1
3 0.925 0.200 17 43091766 frameshift variant -/T delins 1.4E-05 0.700 1.000 2 1997 2016
dbSNP: rs80357868
rs80357868
BRCA1
5 0.851 0.200 17 43091772 frameshift variant GACA/- delins 1.4E-05 0.700 1.000 14 1994 2016
dbSNP: rs80357970
rs80357970
BRCA1
4 0.882 0.200 17 43093056 frameshift variant G/- del 4.0E-06 1.4E-05 0.700 1.000 11 1995 2014
dbSNP: rs398122753
rs398122753
BRCA2
3 0.925 0.200 13 32337161 frameshift variant A/- delins 1.4E-05 0.700 1.000 1 2006 2006
dbSNP: rs587782159
rs587782159
BRCA2
2 0.925 0.200 13 32332859 stop gained G/A;T snv 1.4E-05 0.700 0
dbSNP: rs80359730
rs80359730
BRCA2
3 0.925 0.200 13 32379465 frameshift variant C/- delins 1.4E-05 0.700 1.000 15 1998 2017
dbSNP: rs80359584
rs80359584
BRCA2
8 0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 0.700 1.000 13 1997 2016
dbSNP: rs80357508
rs80357508
BRCA1
4 0.882 0.200 17 43091463 frameshift variant GATT/- delins 1.4E-05 0.700 1.000 8 1996 2011