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: rs80357575
rs80357575
BRCA1
3 0.925 0.200 17 43092202 frameshift variant TTTTT/-;T;TT;TTTT;TTTTTT;TTTTTTT delins 0.700 1.000 3 1996 2017
dbSNP: rs80357770
rs80357770
BRCA1
3 0.925 0.200 17 43094141 frameshift variant TTTT/CTTTC;NNNNN;TTT;TTTTT delins 0.700 1.000 1 2002 2002
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 23 1995 2017
dbSNP: rs80357609
rs80357609
BRCA1
5 0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 0.700 1.000 10 1995 2016
dbSNP: rs80357864
rs80357864
BRCA1
3 0.925 0.200 17 43091597 frameshift variant TTGT/-;TTGTTTGT delins 0.700 0
dbSNP: rs80359871
rs80359871
BRCA1 ; NBR2
3 0.925 0.200 17 43124050 frameshift variant TTAATGACATTTTGTACTTCTTCAACGCG/- del 0.700 1.000 3 2011 2014
dbSNP: rs273897659
rs273897659
BRCA1
3 0.925 0.200 17 43094141 frameshift variant TT/C delins 0.700 0
dbSNP: rs80357802
rs80357802
BRCA1
3 0.925 0.200 17 43093314 frameshift variant TT/-;TTT delins 0.700 1.000 3 2002 2016
dbSNP: rs80357636
rs80357636
BRCA1
3 0.925 0.200 17 43092845 frameshift variant TT/-;T;TTT delins 7.0E-06 0.700 1.000 11 1996 2017
dbSNP: rs80357686
rs80357686
BRCA1
3 0.925 0.200 17 43092242 frameshift variant TT/-;T;TTT delins 0.700 1.000 3 1998 2016
dbSNP: rs80357604
rs80357604
BRCA1
4 0.882 0.200 17 43104234 frameshift variant TT/-;T;TTT delins 0.700 1.000 2 1999 2004
dbSNP: rs80357600
rs80357600
BRCA1
4 0.882 0.200 17 43093857 frameshift variant TT/-;T;TTT delins 0.700 0
dbSNP: rs80357688
rs80357688
BRCA1
3 0.925 0.200 17 43093460 frameshift variant TT/-;T delins 0.700 1.000 10 1998 2015
dbSNP: rs80357971
rs80357971
BRCA1
3 0.925 0.200 17 43092849 frameshift variant TT/-;T delins 7.0E-06 0.700 1.000 10 1994 2016
dbSNP: rs587781423
rs587781423
BRCA1
3 0.925 0.200 17 43092910 frameshift variant TT/-;T delins 0.700 0
dbSNP: rs80357655
rs80357655
BRCA1
4 0.882 0.200 17 43070969 frameshift variant TT/-;T delins 0.700 0
dbSNP: rs80357854
rs80357854
BRCA1
2 1.000 17 43076489 frameshift variant TT/-;T delins 0.700 0
dbSNP: rs80357813
rs80357813
BRCA1
3 0.925 0.200 17 43074431 frameshift variant TT/- del 0.700 1.000 4 1998 2010
dbSNP: rs80357814
rs80357814
BRCA1
3 0.925 0.200 17 43093420 frameshift variant TT/- delins 0.700 1.000 3 2004 2008
dbSNP: rs80357949
rs80357949
BRCA1
3 0.925 0.200 17 43115747 frameshift variant TT/- delins 0.700 1.000 3 1995 2002
dbSNP: rs80357921
rs80357921
BRCA1
3 0.925 0.200 17 43091000 frameshift variant TT/- del 0.700 1.000 1 2012 2012
dbSNP: rs398122653
rs398122653
BRCA1
3 0.925 0.200 17 43093399 frameshift variant TT/- del 0.700 0
dbSNP: rs431825387
rs431825387
BRCA1
2 1.000 17 43093951 frameshift variant TT/- delins 0.700 0
dbSNP: rs587782834
rs587782834
BRCA1
2 1.000 17 43091561 frameshift variant TT/- delins 0.700 0
dbSNP: rs80357818
rs80357818
BRCA1
3 0.925 0.200 17 43051074 frameshift variant TT/- del 0.700 0