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: rs1553938364
rs1553938364
ABRAXAS1
1 1.000 0.200 4 83485026 frameshift variant AGCACAAAGCCCGAGAGCACCG/- delins 0.700 0
dbSNP: rs1057519364
rs1057519364
ATM
1 1.000 0.200 11 108253839 stop gained G/T snv 0.700 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: rs587780024
rs587780024
BARD1
3 0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins 0.700 1.000 2 2010 2012
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: rs977584514
rs977584514
BARD1
1 1.000 0.200 2 214728813 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs879254139
rs879254139
BARD1
3 0.925 0.200 2 214797118 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs28897672
rs28897672
BRCA1
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 1.000 34 1994 2013
dbSNP: rs41293459
rs41293459
BRCA1
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.700 1.000 33 2001 2019
dbSNP: rs41293463
rs41293463
BRCA1
9 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.700 1.000 30 1994 2014
dbSNP: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 1.000 29 1995 2015
dbSNP: rs28897696
rs28897696
BRCA1
11 0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 0.700 1.000 28 1994 2016
dbSNP: rs41293455
rs41293455
BRCA1
6 0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 0.700 1.000 28 1994 2013
dbSNP: rs41293465
rs41293465
BRCA1
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 1.000 26 1996 2016
dbSNP: rs45553935
rs45553935
BRCA1
7 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.700 1.000 26 2004 2019
dbSNP: rs80357150
rs80357150
BRCA1
3 0.925 0.200 17 43106528 missense variant C/A;T snv 0.700 1.000 22 1996 2018
dbSNP: rs80356898
rs80356898
BRCA1
11 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 1.000 20 1995 2016
dbSNP: rs80357069
rs80357069
BRCA1
4 0.882 0.200 17 43049164 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 20 1998 2016