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: rs80357433
rs80357433
BRCA1
5 0.851 0.200 17 43071225 stop gained G/A;C snv 4.0E-06 1.4E-05 0.700 1.000 7 1996 2014
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 6 1994 2017
dbSNP: rs80356903
rs80356903
BRCA1
3 0.925 0.200 17 43091813 stop gained G/A snv 0.700 1.000 6 2007 2016
dbSNP: rs80356923
rs80356923
BRCA1
5 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 0.700 1.000 6 1996 2014
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: rs397508988
rs397508988
BRCA1
3 0.925 0.200 17 43092890 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 2004 2016
dbSNP: rs80356866
rs80356866
BRCA1
3 0.925 0.200 17 43091690 stop gained G/A;C snv 0.700 1.000 5 1997 2017
dbSNP: rs80356978
rs80356978
BRCA1
7 0.827 0.200 17 43092809 stop gained C/A;T snv 0.700 1.000 5 1996 2016
dbSNP: rs80357251
rs80357251
BRCA1
3 0.925 0.200 17 43092896 stop gained C/A;T snv 0.700 1.000 5 2000 2016
dbSNP: rs80357292
rs80357292
BRCA1
3 0.925 0.200 17 43094569 stop gained C/T snv 4.0E-06 0.700 1.000 5 1997 2014
dbSNP: rs80357318
rs80357318
BRCA1
3 0.925 0.200 17 43091594 stop gained G/A snv 0.700 1.000 5 1995 2017
dbSNP: rs80357418
rs80357418
BRCA1
4 0.882 0.200 17 43063890 stop gained C/T snv 8.0E-06 0.700 1.000 5 2003 2017
dbSNP: rs80357629
rs80357629
BRCA1
3 0.925 0.200 17 43045711 stop gained -/T delins 7.0E-06 0.700 1.000 5 1994 2014
dbSNP: rs273898674
rs273898674
BRCA1
4 0.925 0.200 17 43093472 stop gained G/A snv 0.700 1.000 4 1998 2016
dbSNP: rs41293461
rs41293461
BRCA1
2 1.000 17 43063373 stop gained C/G;T snv 0.700 1.000 4 1997 2014
dbSNP: rs80356893
rs80356893
BRCA1
3 0.925 0.200 17 43093919 stop gained G/A snv 0.700 1.000 4 2005 2015
dbSNP: rs80356962
rs80356962
BRCA1
8 0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 1.000 4 1996 2014
dbSNP: rs80356989
rs80356989
BRCA1
4 0.882 0.200 17 43082539 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 4 1997 2012
dbSNP: rs80356997
rs80356997
BRCA1
3 0.925 0.200 17 43076583 stop gained G/A;C;T snv 0.700 1.000 4 2003 2017
dbSNP: rs80357086
rs80357086
BRCA1
8 0.851 0.200 17 43106480 stop gained A/G;T snv 0.700 1.000 4 1995 2015
dbSNP: rs80357106
rs80357106
BRCA1
6 0.827 0.200 17 43092212 stop gained C/A snv 0.700 1.000 4 2008 2016
dbSNP: rs80357118
rs80357118
BRCA1
3 0.925 0.200 17 43093738 stop gained A/C;T snv 8.0E-06 0.700 1.000 4 2002 2015
dbSNP: rs80357219
rs80357219
BRCA1
3 0.925 0.200 17 43049182 stop gained C/T snv 0.700 1.000 4 2002 2015
dbSNP: rs80357259
rs80357259
BRCA1
3 0.925 0.200 17 43091012 stop gained C/A snv 0.700 1.000 4 2001 2017
dbSNP: rs80357303
rs80357303
BRCA1
4 0.925 0.200 17 43071113 stop gained T/A;G snv 4.0E-06 0.700 1.000 4 2007 2016