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: rs80358061
rs80358061
BRCA1
4 0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06 0.700 1.000 15 1994 2015
dbSNP: rs80358163
rs80358163
BRCA1
4 0.882 0.200 17 43104968 intron variant T/C snv 0.700 1.000 13 1998 2015
dbSNP: rs80358079
rs80358079
BRCA1
6 0.827 0.200 17 43057147 intron variant C/T snv 0.700 1.000 12 2000 2015
dbSNP: rs879254224
rs879254224
BRCA1
1 1.000 0.200 17 43099893 intron variant AAAGAACAGT/- delins 0.700 1.000 2 1999 2007
dbSNP: rs1555575231
rs1555575231
BRCA1
1 1.000 0.200 17 43049216 intron variant AAATCACTGCAGTAA/- delins 0.700 0
dbSNP: rs41293455
rs41293455
BRCA1
6 0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 0.700 1.000 28 1994 2013
dbSNP: rs41293465
rs41293465
BRCA1
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 1.000 26 1996 2016
dbSNP: rs80359013
rs80359013
BRCA2
4 0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 0.700 1.000 23 2002 2019
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 20 1995 2016
dbSNP: rs62625308
rs62625308
BRCA1
8 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 18 1994 2016
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: 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 2016
dbSNP: rs80358981
rs80358981
BRCA2
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 1.000 16 1997 2015
dbSNP: rs80356937
rs80356937
BRCA1
4 0.882 0.200 17 43057117 stop gained C/A;T snv 0.700 1.000 15 2000 2014
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 15 2007 2016
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: rs80358972
rs80358972
BRCA2
12 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 1.000 14 1997 2013
dbSNP: rs28897686
rs28897686
BRCA1
4 0.882 0.200 17 43091783 stop gained C/A;T snv 8.0E-06; 2.0E-04 0.700 1.000 13 1994 2015
dbSNP: rs80356991
rs80356991
BRCA1
6 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.700 1.000 13 1997 2016
dbSNP: rs80358785
rs80358785
BRCA2
9 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 1.000 13 2002 2017
dbSNP: rs80358814
rs80358814
BRCA2
12 0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06 0.700 1.000 13 1997 2017
dbSNP: rs80358824
rs80358824
BRCA2
3 0.925 0.200 13 32340264 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 13 1997 2016
dbSNP: rs80359159
rs80359159
BRCA2
3 0.925 0.200 13 32379872 stop gained C/G;T snv 8.0E-06 0.700 1.000 13 2001 2018
dbSNP: rs80356885
rs80356885
BRCA1
6 0.827 0.200 17 43074482 stop gained C/T snv 0.700 1.000 12 2001 2016
dbSNP: rs80358557
rs80358557
BRCA2
10 0.763 0.320 13 32337464 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 12 2000 2017