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: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2018 2018
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: rs273898674
rs273898674
BRCA1
4 0.925 0.200 17 43093472 stop gained G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs397508917
rs397508917
BRCA1
2 0.925 0.200 17 43106475 splice donor variant CATA/- delins 0.010 1.000 1 2014 2014
dbSNP: rs397509039
rs397509039
BRCA1
2 1.000 0.200 17 43092379 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs41295268
rs41295268
MSH6 ; FBXO11
1 1.000 0.200 2 47799386 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs80357033
rs80357033
BRCA1
2 0.925 0.200 17 43106467 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs886037971
rs886037971
BRCA1
3 0.882 0.200 17 43106457 frameshift variant T/-;TT delins 0.010 1.000 1 2009 2009
dbSNP: rs977584514
rs977584514
BARD1
1 1.000 0.200 2 214728813 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.020 0.500 2 2014 2019
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: rs28897743
rs28897743
BRCA2
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 27 1997 2017
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: rs80359013
rs80359013
BRCA2
4 0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 0.700 1.000 23 2002 2019
dbSNP: rs80359306
rs80359306
BRCA2
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 1.000 23 1997 2014
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 22 2000 2017
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: rs80357914
rs80357914
BRCA1 ; NBR2
7 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 22 1994 2018