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: 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: 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: rs28897689
rs28897689
BRCA1
2 1.000 0.200 17 43091492 stop gained T/A;C snv 3.8E-03 4.1E-03 0.700 0
dbSNP: rs137853011
rs137853011
CHEK2
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.700 1.000 18 2005 2018
dbSNP: rs80359550
rs80359550
BRCA2
8 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 1.000 16 1996 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: rs80358638
rs80358638
BRCA2
9 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.700 1.000 14 2003 2017
dbSNP: rs587780174
rs587780174
CHEK2
7 0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 0.700 1.000 5 2011 2016
dbSNP: rs730881645
rs730881645
BRIP1
4 0.882 0.280 17 61683850 frameshift variant A/- del 2.0E-05 5.6E-05 0.700 1.000 3 2015 2019
dbSNP: rs587782785
rs587782785
BRCA2
1 1.000 0.200 13 32370487 stop gained C/G;T snv 2.5E-04 4.9E-05 0.700 0
dbSNP: rs80359212
rs80359212
BRCA2
11 0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 0.700 1.000 18 1990 2015
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: rs80357711
rs80357711
BRCA1
4 0.882 0.200 17 43091496 frameshift variant T/- delins 4.2E-05 0.700 1.000 16 1996 2014
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: rs730881649
rs730881649
BRIP1
4 0.882 0.280 17 61744433 frameshift variant TT/- delins 1.2E-05 3.5E-05 0.700 1.000 4 2005 2016
dbSNP: rs80359505
rs80359505
BRCA2
3 0.925 0.200 13 32339658 frameshift variant TT/- del 4.0E-06 3.5E-05 0.700 1.000 9 2000 2018
dbSNP: rs80359277
rs80359277
BRCA2
4 0.882 0.200 13 32332779 frameshift variant AAGAAAGA/-;AAGA delins 4.1E-06 3.5E-05 0.700 1.000 10 1997 2017
dbSNP: rs80359507
rs80359507
BRCA2
4 0.882 0.200 13 32339700 frameshift variant AAA/-;A;AA;AAAA;AAAAA delins 2.8E-05 0.700 1.000 20 1997 2016
dbSNP: rs397507422
rs397507422
BRCA2
3 0.925 0.200 13 32380124 frameshift variant G/- del 2.8E-05 0.700 1.000 3 2015 2019
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: rs387906843
rs387906843
RAD51D ; RAD51L3-RFFL
3 0.925 0.200 17 35106406 stop gained G/A snv 4.0E-05 2.8E-05 0.700 1.000 4 2011 2015
dbSNP: rs11571658
rs11571658
BRCA2
6 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 1.000 15 1996 2012
dbSNP: rs80359636
rs80359636
BRCA2
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 11 1997 2014
dbSNP: rs730881942
rs730881942
RAD51C ; TEX14
4 0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05 0.700 1.000 1 2011 2011
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