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: 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: 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: 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: 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: rs137852986
rs137852986
BRIP1
9 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.710 < 0.001 0 2016 2016
dbSNP: rs180177097
rs180177097
PALB2
4 0.882 0.080 16 23635519 stop gained G/A snv 0.710 1.000 0 2016 2016
dbSNP: rs28897743
rs28897743
BRCA2
5 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.710 1.000 0 2020 2020
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
3 0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 0.710 1.000 0 2009 2009
dbSNP: rs587782462
rs587782462
PALB2 ; DCTN5
2 1.000 0.080 16 23641140 synonymous variant C/A;T snv 0.710 1.000 0 2019 2019
dbSNP: rs730881701
rs730881701
CHEK2
5 0.827 0.200 22 28725278 stop gained G/A;C snv 2.4E-05 7.0E-06 0.710 1.000 0 2016 2016
dbSNP: rs80356898
rs80356898
BRCA1
9 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.710 1.000 0 2003 2003
dbSNP: rs80357382
rs80357382
BRCA1
7 0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 0.710 1.000 0 2008 2008
dbSNP: rs80357906
rs80357906
BRCA1
7 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.710 < 0.001 0 2019 2019
dbSNP: rs80358807
rs80358807
BRCA2
9 0.763 0.280 13 32340146 stop gained C/T snv 0.710 1.000 0 2017 2017