Source: CLINVAR ×
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: rs28897672
rs28897672
BRCA1
9 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.870 1.000 0 2004 2019
dbSNP: rs200928781
rs200928781
CHEK2
2 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.810 1.000 5 2002 2018
dbSNP: rs28897696
rs28897696
BRCA1
5 0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 0.810 0.833 0 2002 2014
dbSNP: rs28897759
rs28897759
BRCA2
4 0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.810 1.000 0 2014 2014
dbSNP: rs55770810
rs55770810
BRCA1
7 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.810 1.000 0 2004 2014
dbSNP: rs17879961
rs17879961
CHEK2
12 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.800 0.929 14 2001 2016
dbSNP: rs41293455
rs41293455
BRCA1
6 0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 0.800 1.000 0 1994 2017
dbSNP: rs41293511
rs41293511
BRCA2
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.800 1.000 0 2004 2014
dbSNP: rs45580035
rs45580035
BRCA2
8 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.800 1.000 0 1997 2014
dbSNP: rs80357389
rs80357389
BRCA1
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 0 1994 2017
dbSNP: rs80359014
rs80359014
BRCA2
10 0.763 0.320 13 32362596 missense variant A/G;T snv 0.800 0
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
7 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.780 0.875 0 1998 2016
dbSNP: rs796065354
rs796065354
ESR1
1 0.882 0.080 6 151944320 missense variant A/G snv 0.760 1.000 5 2000 2013
dbSNP: rs28934578
rs28934578
TP53
16 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.750 1.000 0 2011 2018
dbSNP: rs28934576
rs28934576
TP53
39 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 0 2011 2020
dbSNP: rs180177132
rs180177132
PALB2
8 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.730 1.000 9 2010 2016
dbSNP: rs180177111
rs180177111
PALB2
3 0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06 0.720 1.000 5 2007 2013
dbSNP: rs536907995
rs536907995
CHEK2
2 0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05 0.720 1.000 3 2014 2016
dbSNP: rs180177143
rs180177143
PALB2
3 0.882 0.080 16 23637886 frameshift variant ACAA/- delins 4.0E-05 3.5E-05 0.720 1.000 1 2013 2019
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.720 1.000 0 2012 2015
dbSNP: rs138213197
rs138213197
HOXB13
6 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.720 0.500 0 2012 2016
dbSNP: rs1801155
rs1801155
APC
10 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.720 1.000 0 1998 1999
dbSNP: rs28909982
rs28909982
CHEK2
2 0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05 0.710 1.000 18 2002 2019
dbSNP: rs180177110
rs180177110
PALB2
3 0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05 0.710 1.000 2 2007 2019
dbSNP: rs515726123
rs515726123
PALB2
4 0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05 0.710 1.000 1 2010 2018