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: rs80357880
rs80357880
BRCA1
3 0.925 0.200 17 43093426 frameshift variant A/-;AA delins 0.700 1.000 1 2017 2017
dbSNP: rs876659327
rs876659327
BRCA1
4 0.882 0.200 17 43094390 frameshift variant -/C delins 0.700 1.000 3 2016 2018
dbSNP: rs80357579
rs80357579
BRCA1
4 0.882 0.200 17 43091760 frameshift variant CT/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs1555579633
rs1555579633
BRCA1
2 1.000 0.200 17 43067623 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs587781487
rs587781487
BRCA1
3 0.925 0.200 17 43099809 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs730882164
rs730882164
BRCA1
3 0.925 0.200 17 43092020 stop gained T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs80357927
rs80357927
BRCA1
3 0.925 0.200 17 43093719 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1555592354
rs1555592354
BRCA1
1 17 43094377 stop gained C/T snv 0.700 1.000 3 2015 2016
dbSNP: rs397507218
rs397507218
BRCA1
3 0.925 0.080 17 43091759 frameshift variant CC/G delins 0.700 1.000 2 2015 2016
dbSNP: rs80357356
rs80357356
BRCA1
3 0.925 0.200 17 43091867 stop gained C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs80357419
rs80357419
BRCA1
2 1.000 17 43092791 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs80357429
rs80357429
BRCA1
2 1.000 17 43071127 stop gained G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs80357558
rs80357558
BRCA1
2 1.000 17 43047693 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs80358008
rs80358008
BRCA1
3 0.925 0.200 17 43071239 splice acceptor variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs80358089
rs80358089
BRCA1
3 0.925 0.200 17 43067606 splice donor variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs80358094
rs80358094
BRCA1
4 0.882 0.200 17 43063873 splice donor variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs730881440
rs730881440
BRCA1
3 0.925 0.200 17 43091763 frameshift variant GT/- delins 0.700 1.000 6 2014 2016
dbSNP: rs397507254
rs397507254
BRCA1
2 1.000 17 43045692 frameshift variant G/-;GG delins 0.700 1.000 1 2014 2014
dbSNP: rs80357071
rs80357071
BRCA1
2 1.000 17 43090981 stop gained G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs80357751
rs80357751
BRCA1
2 1.000 17 43051067 frameshift variant G/-;GG delins 0.700 1.000 1 2014 2014
dbSNP: rs80357876
rs80357876
BRCA1
3 0.925 0.200 17 43092591 frameshift variant T/- del 0.700 1.000 1 2014 2014
dbSNP: rs80358076
rs80358076
BRCA1
2 1.000 17 43090943 splice donor variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs876658626
rs876658626
BRCA1
3 0.925 0.200 17 43092237 frameshift variant A/- delins 0.700 1.000 1 2014 2014
dbSNP: rs876659720
rs876659720
BRCA1
2 1.000 17 43091552 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs398122670
rs398122670
BRCA1
3 0.925 0.200 17 43092628 frameshift variant -/AG delins 0.700 1.000 3 2013 2014