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: rs80357724
rs80357724
BRCA1
4 0.925 0.200 17 43094732 frameshift variant AA/-;A;AAA delins 0.700 0
dbSNP: rs80357760
rs80357760
BRCA1
3 0.925 0.120 17 43063941 frameshift variant AA/-;AAA delins 0.700 0
dbSNP: rs80357888
rs80357888
BRCA1
5 0.882 0.200 17 43094023 frameshift variant ATTTA/- delins 0.700 0
dbSNP: rs80357906
rs80357906
BRCA1
8 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: rs886040109
rs886040109
BRCA1
2 1.000 17 43092265 frameshift variant A/- 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
dbSNP: rs41293463
rs41293463
BRCA1
9 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.010 1.000 1 1999 1999
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: rs80357167
rs80357167
BRCA1
2 1.000 17 43094066 stop gained C/A;T snv 0.700 1.000 1 2004 2004
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: rs80357787
rs80357787
BRCA1
4 0.925 0.200 17 43091008 frameshift variant TC/- delins 0.700 1.000 1 2004 2004
dbSNP: rs80357243
rs80357243
BRCA1
2 17 43063885 missense variant A/C;G snv 0.700 1.000 2 2010 2015
dbSNP: rs80357635
rs80357635
BRCA1
5 0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs80357034
rs80357034
BRCA1
5 0.882 0.200 17 43067610 missense variant G/A;C;T snv 0.010 < 0.001 1 2012 2012
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: 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: rs55680408
rs55680408
BRCA1
1 17 43095875 missense variant T/A;C snv 3.6E-05 2.8E-05 0.010 1.000 1 2016 2016