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: rs28897672
rs28897672
BRCA1
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.730 1.000 3 2006 2010
dbSNP: rs41293459
rs41293459
BRCA1
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.710 1.000 1 2012 2012
dbSNP: rs1555578360
rs1555578360
BRCA1
1 1.000 0.120 17 43063353 frameshift variant -/T delins 0.700 1.000 1 2004 2004
dbSNP: rs1555587401
rs1555587401
BRCA1
1 1.000 0.120 17 43091910 frameshift variant C/- del 0.700 1.000 1 2004 2004
dbSNP: rs1555588460
rs1555588460
BRCA1
1 1.000 0.120 17 43092472 frameshift variant G/- delins 0.700 1.000 1 2004 2004
dbSNP: rs62625308
rs62625308
BRCA1
8 0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 0.700 1.000 1 2004 2004
dbSNP: rs80357234
rs80357234
BRCA1
4 0.882 0.200 17 43104949 stop gained G/A;T snv 0.700 1.000 1 2004 2004
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 1 2004 2004
dbSNP: rs80357579
rs80357579
BRCA1
4 0.882 0.200 17 43091760 frameshift variant CT/- delins 1.4E-05 0.700 1.000 1 2004 2004
dbSNP: rs80357912
rs80357912
BRCA1
3 0.882 0.200 17 43092914 frameshift variant A/-;AA delins 0.700 1.000 1 2004 2004
dbSNP: rs80358010
rs80358010
BRCA1 ; NBR2
4 0.882 0.200 17 43124016 splice donor variant C/A;G;T snv 0.700 1.000 1 2004 2004
dbSNP: rs1060502333
rs1060502333
BRCA1
3 0.882 0.200 17 43093322 frameshift variant T/- delins 0.700 0
dbSNP: rs1567788936
rs1567788936
BRCA1
1 1.000 0.120 17 43091438 missense variant A/C snv 0.700 0
dbSNP: rs1567790190
rs1567790190
BRCA1
1 1.000 0.120 17 43091762 frameshift variant GTGTTCTTAGACAGACACT/- delins 0.700 0
dbSNP: rs1567792938
rs1567792938
BRCA1
1 1.000 0.120 17 43092435 frameshift variant T/- del 0.700 0
dbSNP: rs1567797661
rs1567797661
BRCA1
1 1.000 0.120 17 43093592 frameshift variant TAGAACAACTATCAATTTGC/- delins 0.700 0
dbSNP: rs1567797787
rs1567797787
BRCA1
1 1.000 0.120 17 43093628 frameshift variant -/A delins 0.700 0
dbSNP: rs1567798003
rs1567798003
BRCA1
1 1.000 0.120 17 43093676 frameshift variant G/- del 0.700 0
dbSNP: rs1567800087
rs1567800087
BRCA1
1 1.000 0.120 17 43094229 frameshift variant -/TGGCCAGTAAGTCTATTTTCTCTGAAGAACC delins 0.700 0
dbSNP: rs1567801576
rs1567801576
BRCA1
1 1.000 0.120 17 43094624 frameshift variant C/- del 0.700 0
dbSNP: rs273901746
rs273901746
BRCA1
4 0.882 0.200 17 43063375 splice acceptor variant T/- del 0.700 0
dbSNP: rs397507215
rs397507215
BRCA1
3 0.925 0.120 17 43092179 stop gained G/A snv 0.700 0
dbSNP: rs397509071
rs397509071
BRCA1
1 1.000 0.120 17 43104217 stop gained C/A;T snv 0.700 0
dbSNP: rs397509236
rs397509236
BRCA1
2 0.925 0.120 17 43063332 splice donor variant C/- delins 0.700 0
dbSNP: rs41293465
rs41293465
BRCA1
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 0