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: rs80357389
rs80357389
BRCA1
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 19 2003 2018
dbSNP: rs80357446
rs80357446
BRCA1
6 0.827 0.200 17 43115729 missense variant C/A;T snv 0.700 1.000 19 2001 2017
dbSNP: rs180177132
rs180177132
PALB2
11 0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 0.700 1.000 18 2007 2017
dbSNP: rs28929483
rs28929483
MSH2
4 0.925 0.160 2 47475130 missense variant C/A;G;T snv 0.700 1.000 18 1993 2017
dbSNP: rs529008617
rs529008617
MUTYH
7 0.851 0.160 1 45331529 missense variant G/A snv 7.2E-05 2.8E-05 0.700 1.000 18 2005 2017
dbSNP: rs55863639
rs55863639
TP53
2 1.000 0.120 17 7675994 splice region variant C/A;G;T snv 0.700 1.000 18 1989 2015
dbSNP: rs63750617
rs63750617
MSH6 ; FBXO11
6 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 1.000 18 2004 2017
dbSNP: rs63751194
rs63751194
MLH1
7 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.700 1.000 18 2002 2017
dbSNP: rs80338844
rs80338844
SDHD
10 0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 18 2000 2015
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 18 1995 2018
dbSNP: rs142763740
rs142763740
CHEK2
2 1.000 0.080 22 28694066 missense variant G/A;C;T snv 3.3E-04 3.1E-04 0.700 1.000 17 1999 2018
dbSNP: rs41293513
rs41293513
BRCA2
4 0.882 0.200 13 32363370 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 17 2004 2018
dbSNP: rs80357123
rs80357123
BRCA1
7 0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05 0.700 1.000 17 1997 2017
dbSNP: rs80358721
rs80358721
BRCA2
14 0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 0.700 1.000 17 2007 2018
dbSNP: rs81002836
rs81002836
BRCA2
5 0.851 0.200 13 32362521 splice acceptor variant A/G;T snv 0.700 1.000 17 1999 2016
dbSNP: rs104894095
rs104894095
CDKN2A
6 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.700 1.000 16 1995 2010
dbSNP: rs267607767
rs267607767
MLH1
4 0.925 0.160 3 37012009 splice acceptor variant A/C;G snv 0.700 1.000 16 1995 2016
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 1.000 16 1994 2016
dbSNP: rs63749849
rs63749849
MSH2
6 0.851 0.240 2 47429812 stop gained C/T snv 0.700 1.000 16 1995 2015
dbSNP: rs74315368
rs74315368
SDHB
5 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 16 2004 2015
dbSNP: rs74315370
rs74315370
SDHB
5 0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05 0.700 1.000 16 2002 2015
dbSNP: rs75030001
rs75030001
RET
7 0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-06; 2.0E-05 0.700 1.000 16 1998 2018
dbSNP: rs80357064
rs80357064
BRCA1
4 0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05 0.700 1.000 16 1994 2015
dbSNP: rs80359152
rs80359152
BRCA2
5 0.851 0.200 13 32379800 missense variant G/A snv 0.700 1.000 16 2006 2018
dbSNP: rs140342925
rs140342925
MUTYH
5 0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05 0.700 1.000 15 2005 2016