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: rs80357973
rs80357973
BRCA1
4 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 1.000 13 1976 2016
dbSNP: rs80357243
rs80357243
BRCA1
2 17 43063885 missense variant A/C;G snv 0.700 1.000 2 2010 2015
dbSNP: rs80357772
rs80357772
BRCA1
4 0.925 0.200 17 43094549 frameshift variant AT/- del 0.700 1.000 2 2004 2016
dbSNP: rs1057517590
rs1057517590
BRCA1
2 1.000 17 43063370 frameshift variant A/- del 0.700 1.000 1 2004 2004
dbSNP: rs1555582520
rs1555582520
BRCA1
1 17 43076486 splice donor variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs1555599208
rs1555599208
BRCA1
2 1.000 17 43115726 stop gained TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- del 0.700 1.000 1 2016 2016
dbSNP: rs273898674
rs273898674
BRCA1
4 0.925 0.200 17 43093472 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs397508940
rs397508940
BRCA1
2 1.000 17 43104958 splice acceptor variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397508979
rs397508979
BRCA1
1 17 43092974 frameshift variant -/GAAAAGTGAA ins 0.700 1.000 1 2016 2016
dbSNP: rs397508983
rs397508983
BRCA1
2 1.000 17 43092959 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
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: rs587781632
rs587781632
BRCA1
4 0.925 0.200 17 43106476 splice donor variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs80357167
rs80357167
BRCA1
2 1.000 17 43094066 stop gained C/A;T snv 0.700 1.000 1 2004 2004
dbSNP: rs80357303
rs80357303
BRCA1
4 0.925 0.200 17 43071113 stop gained T/A;G snv 4.0E-06 0.700 1.000 1 2016 2016
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: rs80357498
rs80357498
BRCA1
4 0.925 0.200 17 43115744 missense variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs80357580
rs80357580
BRCA1
4 0.925 0.200 17 43067649 stop gained GTTA/-;GTTAGTTA delins 7.0E-06 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: rs80357787
rs80357787
BRCA1
4 0.925 0.200 17 43091008 frameshift variant TC/- delins 0.700 1.000 1 2004 2004
dbSNP: rs80358146
rs80358146
BRCA1
2 1.000 17 43104957 splice acceptor variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs886037784
rs886037784
BRCA1
2 1.000 17 43099803 frameshift variant A/- del 0.700 1.000 1 2016 2016
dbSNP: rs886037785
rs886037785
BRCA1
2 1.000 17 43091708 frameshift variant TACCT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037786
rs886037786
BRCA1
2 1.000 17 43094231 frameshift variant -/G delins 0.700 1.000 1 2016 2016
dbSNP: rs886037787
rs886037787
BRCA1
2 1.000 17 43092961 stop gained A/T snv 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