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: rs1555574034
rs1555574034
BRCA1
1 17 43044407 3 prime UTR variant A/G snv 0.700 1.000 1 2012 2012
dbSNP: rs397507254
rs397507254
BRCA1
2 1.000 17 43045692 frameshift variant G/-;GG delins 0.700 1.000 1 2014 2014
dbSNP: rs80357629
rs80357629
BRCA1
3 0.925 0.200 17 43045711 stop gained -/T delins 7.0E-06 0.700 1.000 5 1994 2014
dbSNP: rs80357258
rs80357258
BRCA1
2 1.000 0.200 17 43045712 missense variant T/C snv 0.700 1.000 14 2003 2016
dbSNP: rs1060505048
rs1060505048
BRCA1
3 0.925 0.200 17 43045736 frameshift variant T/- del 0.700 1.000 4 2008 2014
dbSNP: rs80357019
rs80357019
BRCA1
2 1.000 0.200 17 43045743 missense variant C/G snv 0.700 1.000 7 2003 2010
dbSNP: rs80357721
rs80357721
BRCA1
3 0.925 0.200 17 43045749 frameshift variant T/- del 0.700 1.000 1 1998 1998
dbSNP: rs80357307
rs80357307
BRCA1
5 0.851 0.200 17 43045760 stop gained C/T snv 0.700 0
dbSNP: rs80356959
rs80356959
BRCA1
5 0.851 0.200 17 43045761 missense variant A/C;G snv 0.700 1.000 24 1996 2017
dbSNP: rs273902775
rs273902775
BRCA1
2 1.000 17 43045764 frameshift variant CTCGGGTCACC/C;T 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 1.000 19 1996 2017
dbSNP: rs80357268
rs80357268
BRCA1
6 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.700 1.000 6 2004 2013
dbSNP: rs730881441
rs730881441
BRCA1
3 0.925 0.200 17 43045789 frameshift variant TCTGCCCA/- 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 8 2004 2016
dbSNP: rs80358009
rs80358009
BRCA1
3 0.925 0.200 17 43047641 splice donor variant A/C;G snv 0.700 1.000 1 2008 2008
dbSNP: rs80358145
rs80358145
BRCA1
3 0.925 0.200 17 43047642 splice donor variant C/T snv 7.0E-06 0.700 1.000 9 2001 2018
dbSNP: rs1057518636
rs1057518636
BRCA1
3 1.000 17 43047646 frameshift variant -/A ins 0.700 0
dbSNP: rs80357477
rs80357477
BRCA1
3 0.925 0.200 17 43047657 missense variant T/C snv 0.700 1.000 5 2007 2015
dbSNP: rs397509286
rs397509286
BRCA1
3 0.925 0.200 17 43047659 frameshift variant CT/- delins 0.700 1.000 1 2005 2005
dbSNP: rs397509284
rs397509284
BRCA1
3 0.925 0.200 17 43047665 stop gained C/T snv 4.0E-06 0.700 1.000 7 2004 2017
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 1.000 4 1996 2014
dbSNP: rs1800751
rs1800751
BRCA1
5 0.851 0.160 17 43047676 missense variant G/A;C snv 4.0E-06 0.700 1.000 13 2003 2018
dbSNP: rs80357558
rs80357558
BRCA1
2 1.000 17 43047693 frameshift variant G/- delins 0.700 1.000 1 2015 2015
dbSNP: rs80358073
rs80358073
BRCA1
2 1.000 17 43049116 splice region variant C/A;G;T snv 0.700 1.000 5 1997 2014
dbSNP: rs879255492
rs879255492
BRCA1
2 1.000 17 43049137 stop gained G/A;C;T snv 0.700 0