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: rs41293459
rs41293459
BRCA1
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.700 1.000 7 2012 2018
dbSNP: rs80359009
rs80359009
BRCA2
2 1.000 0.200 13 32362543 missense variant G/A;C;T snv 0.700 1.000 7 1999 2018
dbSNP: rs80359082
rs80359082
BRCA2
4 0.882 0.200 13 32370447 stop gained G/A;T snv 8.0E-06 0.700 1.000 7 2002 2018
dbSNP: rs80359554
rs80359554
BRCA2
3 0.925 0.200 13 32340378 frameshift variant -/G delins 0.700 1.000 7 2005 2018
dbSNP: rs397507375
rs397507375
BRCA2
3 0.925 0.200 13 32341078 frameshift variant GA/- delins 0.700 1.000 6 2009 2018
dbSNP: rs398123318
rs398123318
PTEN
9 0.776 0.240 10 87925558 splice region variant AGTA/- delins 0.700 1.000 6 2000 2018
dbSNP: rs398123331
rs398123331
RB1 ; LOC112268118
2 1.000 0.080 13 48380062 stop gained C/A;G;T snv 7.6E-06 0.700 1.000 6 1995 2018
dbSNP: rs786201042
rs786201042
MSH6
7 0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 0.700 1.000 6 2010 2018
dbSNP: rs80357115
rs80357115
BRCA1
8 0.790 0.200 17 43092597 stop gained A/C;T snv 0.700 1.000 6 1998 2018
dbSNP: rs80358979
rs80358979
BRCA2
2 1.000 0.120 13 32356521 missense variant T/C snv 0.700 1.000 6 2004 2018
dbSNP: rs80359012
rs80359012
BRCA2
2 1.000 13 32362585 missense variant A/G snv 0.700 1.000 6 2002 2018
dbSNP: rs80359024
rs80359024
BRCA2
2 1.000 13 32362681 missense variant A/G snv 0.700 1.000 6 2001 2018
dbSNP: rs80359064
rs80359064
BRCA2
2 1.000 13 32363379 missense variant A/G snv 7.0E-06 0.700 1.000 6 2002 2018
dbSNP: rs587782069
rs587782069
FLCN
3 0.925 0.120 17 17224041 stop gained G/A snv 0.700 1.000 5 2013 2018
dbSNP: rs587782401
rs587782401
CHEK2
5 0.851 0.200 22 28734401 splice donor variant A/G;T snv 4.0E-06; 6.8E-05 0.700 1.000 5 2013 2018
dbSNP: rs63750084
rs63750084
MSH2
3 1.000 0.160 2 47482786 frameshift variant A/-;AA delins 0.700 1.000 5 2001 2018
dbSNP: rs80357808
rs80357808
BRCA1
2 1.000 17 43092089 frameshift variant C/- del 4.0E-06 0.700 1.000 5 2008 2018
dbSNP: rs587779001
rs587779001
MLH1 ; EPM2AIP1
3 1.000 0.080 3 36993521 5 prime UTR variant C/A;T snv 4.0E-06 0.700 1.000 4 2011 2018
dbSNP: rs80359772
rs80359772
BRCA2
4 0.882 0.200 13 32398179 frameshift variant T/- del 4.0E-06 0.700 1.000 4 2001 2018
dbSNP: rs1131690832
rs1131690832
FLCN
1 17 17219018 splice donor variant C/T snv 0.700 1.000 3 2005 2018
dbSNP: rs587779851
rs587779851
ATM ; C11orf65
2 1.000 0.200 11 108310188 frameshift variant G/CCT delins 0.700 1.000 3 1999 2018
dbSNP: rs80357762
rs80357762
BRCA1
2 1.000 17 43099827 frameshift variant -/A delins 8.0E-06 0.700 1.000 3 2002 2018
dbSNP: rs876659327
rs876659327
BRCA1
4 0.882 0.200 17 43094390 frameshift variant -/C delins 0.700 1.000 3 2016 2018
dbSNP: rs11575996
rs11575996
TP53
2 1.000 0.120 17 7673535 missense variant C/A;T snv 0.700 1.000 2 2012 2018
dbSNP: rs137854550
rs137854550
NF1
10 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 1.000 2 2017 2018