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: rs202160435
rs202160435
ATM
2 0.925 0.240 11 108247072 missense variant G/A snv 8.0E-05 6.3E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs1057519364
rs1057519364
ATM
1 1.000 0.200 11 108253839 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs730881364
rs730881364
ATM
2 1.000 0.200 11 108284226 splice acceptor variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs778031266
rs778031266
ATM ; C11orf65
4 0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1555124587
rs1555124587
ATM ; C11orf65
1 1.000 0.200 11 108331957 stop gained G/T snv 0.700 0
dbSNP: rs376824528
rs376824528
ATM ; C11orf65
1 1.000 0.200 11 108332789 missense variant A/G snv 1.6E-05 4.2E-05 0.700 0
dbSNP: rs770641163
rs770641163
ATM ; C11orf65
4 0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs977584514
rs977584514
BARD1
1 1.000 0.200 2 214728813 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs587780024
rs587780024
BARD1
3 0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins 0.700 1.000 2 2010 2012
dbSNP: rs587781948
rs587781948
BARD1
5 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 2016 2017
dbSNP: rs587780021
rs587780021
BARD1
6 0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 0.700 1.000 7 2012 2016
dbSNP: rs796666047
rs796666047
BARD1
3 0.925 0.200 2 214780669 stop gained G/C;T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs879254139
rs879254139
BARD1
3 0.925 0.200 2 214797118 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs118203998
rs118203998
PALB2
11 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 1.000 4 2007 2015
dbSNP: rs180177135
rs180177135
PALB2
27 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 1.000 3 2007 2017
dbSNP: rs587782337
rs587782337
PALB2
2 1.000 0.200 16 23607925 frameshift variant GGTT/NNNNNNNN;TCATTAAC delins 0.700 1.000 1 2014 2014
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: rs180177126
rs180177126
PALB2
3 0.925 0.200 16 23623044 frameshift variant TT/- delins 0.700 1.000 4 2011 2016
dbSNP: rs767633741
rs767633741
PALB2
3 0.925 0.200 16 23626377 frameshift variant G/-;GG delins 0.700 1.000 2 2013 2015
dbSNP: rs180177110
rs180177110
PALB2
4 0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05 0.700 1.000 5 2007 2017
dbSNP: rs1555460445
rs1555460445
PALB2
3 0.925 0.200 16 23629936 stop gained G/A snv 0.700 0
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: rs786203714
rs786203714
PALB2
4 0.925 0.200 16 23635095 stop gained A/T snv 0.700 0
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: rs375699023
rs375699023
PALB2
3 0.925 0.200 16 23635504 stop gained G/A;T snv 4.0E-05 0.700 1.000 1 2016 2016