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: rs28897689
rs28897689
BRCA1
2 1.000 0.200 17 43091492 stop gained T/A;C snv 3.8E-03 4.1E-03 0.700 0
dbSNP: rs80357711
rs80357711
BRCA1
4 0.882 0.200 17 43091496 frameshift variant T/- delins 4.2E-05 0.700 1.000 16 1996 2014
dbSNP: rs80357579
rs80357579
BRCA1
4 0.882 0.200 17 43091760 frameshift variant CT/- delins 1.4E-05 0.700 1.000 8 1995 2013
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 6 1996 2016
dbSNP: rs80357848
rs80357848
BRCA1
3 0.925 0.200 17 43091766 frameshift variant -/T delins 1.4E-05 0.700 1.000 2 1997 2016
dbSNP: rs80357868
rs80357868
BRCA1
5 0.851 0.200 17 43091772 frameshift variant GACA/- delins 1.4E-05 0.700 1.000 14 1994 2016
dbSNP: rs80357970
rs80357970
BRCA1
4 0.882 0.200 17 43093056 frameshift variant G/- del 4.0E-06 1.4E-05 0.700 1.000 11 1995 2014
dbSNP: rs80357508
rs80357508
BRCA1
4 0.882 0.200 17 43091463 frameshift variant GATT/- delins 1.4E-05 0.700 1.000 8 1996 2011
dbSNP: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 1.000 29 1995 2015
dbSNP: rs273899695
rs273899695
BRCA1
3 0.925 0.200 17 43104263 splice acceptor variant T/- del 7.0E-06 0.700 1.000 5 1997 2010
dbSNP: rs80357601
rs80357601
BRCA1
3 0.925 0.200 17 43092526 frameshift variant T/- delins 7.0E-06 0.700 1.000 8 1994 2015
dbSNP: rs80357971
rs80357971
BRCA1
3 0.925 0.200 17 43092849 frameshift variant TT/-;T delins 7.0E-06 0.700 1.000 9 1994 2016
dbSNP: rs80357580
rs80357580
BRCA1
4 0.925 0.200 17 43067649 stop gained GTTA/-;GTTAGTTA delins 7.0E-06 0.700 1.000 10 1997 2018
dbSNP: rs80357636
rs80357636
BRCA1
3 0.925 0.200 17 43092845 frameshift variant TT/-;T;TTT delins 7.0E-06 0.700 1.000 2 1997 2002
dbSNP: rs80357629
rs80357629
BRCA1
3 0.925 0.200 17 43045711 stop gained -/T delins 7.0E-06 0.700 1.000 7 1994 2014
dbSNP: rs80357134
rs80357134
BRCA1 ; NBR2
3 0.882 0.200 17 43124063 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 7 2002 2016
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 10 1997 2016
dbSNP: rs80357661
rs80357661
BRCA1
3 0.925 0.200 17 43092761 frameshift variant AACT/- delins 4.0E-06 7.0E-06 0.700 1.000 2 2016 2016
dbSNP: rs80357717
rs80357717
BRCA1
3 0.925 0.200 17 43092823 frameshift variant -/AT delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1351019392
rs1351019392
BRCA1
2 0.925 0.200 17 43099881 splice acceptor variant C/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs80357526
rs80357526
BRCA1
4 0.882 0.200 17 43093575 frameshift variant CTTT/- delins 7.0E-06 0.700 1.000 10 1999 2017
dbSNP: rs886040237
rs886040237
BRCA1
2 0.925 0.200 17 43074433 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs80357509
rs80357509
BRCA1
4 0.882 0.200 17 43092046 frameshift variant T/- del 4.0E-06 7.0E-06 0.700 1.000 8 1997 2016
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 8 1996 2014
dbSNP: rs80358145
rs80358145
BRCA1
3 0.925 0.200 17 43047642 splice donor variant C/T snv 7.0E-06 0.700 1.000 11 2001 2018