Gene: BRCA1 ×
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 0
dbSNP: rs80358079
rs80358079
BRCA1
6 0.827 0.200 17 43057147 intron variant C/T snv 0.700 0
dbSNP: rs80358163
rs80358163
BRCA1
4 0.882 0.200 17 43104968 intron variant T/C snv 0.700 0
dbSNP: rs41293465
rs41293465
BRCA1
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 1.000 19 1996 2017
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: 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: 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 14 2005 2017
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
5 0.851 0.200 17 43124032 stop gained A/G;T snv 0.700 1.000 11 1998 2016
dbSNP: rs80356936
rs80356936
BRCA1
5 0.851 0.200 17 43104260 stop gained A/C;G;T snv 4.0E-06 0.700 1.000 10 2007 2018
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 9 2002 2016
dbSNP: rs80357136
rs80357136
BRCA1
3 0.925 0.200 17 43092128 stop gained G/A;C snv 4.0E-06; 8.0E-06 0.700 1.000 9 1999 2015
dbSNP: rs80357424
rs80357424
BRCA1
3 0.925 0.200 17 43092353 stop gained C/A;G snv 0.700 1.000 9 1989 2017
dbSNP: rs80357472
rs80357472
BRCA1
3 0.925 0.200 17 43094477 stop gained C/A;T snv 8.0E-06 0.700 1.000 9 2001 2018
dbSNP: rs80357580
rs80357580
BRCA1
4 0.925 0.200 17 43067649 stop gained GTTA/-;GTTAGTTA delins 7.0E-06 0.700 1.000 9 1997 2016
dbSNP: rs62625307
rs62625307
BRCA1
8 0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06 0.700 1.000 8 1998 2016
dbSNP: rs80356885
rs80356885
BRCA1
6 0.827 0.200 17 43074482 stop gained C/T snv 0.700 1.000 8 2001 2017
dbSNP: rs80356974
rs80356974
BRCA1
3 0.925 0.200 17 43063917 stop gained A/C;G snv 0.700 1.000 8 2001 2015
dbSNP: rs80357082
rs80357082
BRCA1
4 0.882 0.200 17 43093496 stop gained T/A snv 0.700 1.000 8 1997 2014
dbSNP: rs397509284
rs397509284
BRCA1
3 0.925 0.200 17 43047665 stop gained C/T snv 4.0E-06 0.700 1.000 7 2004 2017
dbSNP: rs62625308
rs62625308
BRCA1
8 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 7 1994 2017
dbSNP: rs80356925
rs80356925
BRCA1
3 0.925 0.200 17 43092928 stop gained G/C;T snv 4.0E-06 0.700 1.000 7 2002 2016
dbSNP: rs80356945
rs80356945
BRCA1
4 0.882 0.200 17 43093193 stop gained G/A;C;T snv 4.0E-06 0.700 1.000 7 1995 2016
dbSNP: rs80357006
rs80357006
BRCA1
4 0.925 0.200 17 43092274 stop gained A/C;G;T snv 1.2E-05 0.700 1.000 7 1998 2015
dbSNP: rs80357208
rs80357208
BRCA1
3 0.925 0.200 17 43091714 stop gained G/A snv 0.700 1.000 7 2006 2016
dbSNP: rs80357260
rs80357260
BRCA1
3 0.925 0.200 17 43090946 stop gained G/A snv 4.1E-06 0.700 1.000 7 1996 2016