Gene: BRCA1 ×
Source: CLINVAR ×
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: rs80357243
rs80357243
BRCA1
2 17 43063885 missense variant A/C;G snv 0.700 1.000 2 2010 2015
dbSNP: rs1555582520
rs1555582520
BRCA1
1 17 43076486 splice donor variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs397508979
rs397508979
BRCA1
1 17 43092974 frameshift variant -/GAAAAGTGAA ins 0.700 1.000 1 2016 2016
dbSNP: rs886037788
rs886037788
BRCA1
1 17 43091461 frameshift variant -/TCAA ins 0.700 1.000 1 2016 2016
dbSNP: rs886037789
rs886037789
BRCA1
1 17 43071159 frameshift variant T/- del 0.700 1.000 1 2016 2016
dbSNP: rs1131692162
rs1131692162
BRCA1
1 17 43099781 stop gained C/A snv 0.700 0
dbSNP: rs28897672
rs28897672
BRCA1
9 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.700 0
dbSNP: rs80357382
rs80357382
BRCA1
7 0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 0
dbSNP: rs28897696
rs28897696
BRCA1
5 0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 0.700 0
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 0
dbSNP: rs80356978
rs80356978
BRCA1
7 0.827 0.200 17 43092809 stop gained C/A;T snv 0.700 0
dbSNP: rs80357123
rs80357123
BRCA1
7 0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05 0.700 0
dbSNP: rs80357906
rs80357906
BRCA1
7 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 0
dbSNP: rs80358044
rs80358044
BRCA1
7 0.827 0.200 17 43074330 splice donor variant C/A;G;T 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 1 2016 2016
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
6 0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs62625308
rs62625308
BRCA1
6 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 0
dbSNP: rs80357086
rs80357086
BRCA1
4 0.851 0.200 17 43106480 stop gained A/G;T snv 0.700 0
dbSNP: rs80357481
rs80357481
BRCA1
5 0.882 0.200 17 43094317 stop gained G/C;T snv 0.700 1.000 1 2004 2004
dbSNP: rs1800747
rs1800747
BRCA1
5 0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv 0.700 0
dbSNP: rs80356923
rs80356923
BRCA1
4 0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 0.700 0
dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
4 0.882 0.200 17 43124096 start lost T/C snv 0.700 0
dbSNP: rs80357888
rs80357888
BRCA1
5 0.882 0.200 17 43094023 frameshift variant ATTTA/- delins 0.700 0
dbSNP: rs80357973
rs80357973
BRCA1
4 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 1.000 13 1976 2016