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: rs886039675
rs886039675
BRCA1
1 1.000 0.200 17 43045701 frameshift variant G/- delins 0.700 1.000 5 2001 2015
dbSNP: rs80357629
rs80357629
BRCA1
3 0.925 0.200 17 43045711 stop gained -/T delins 7.0E-06 0.700 1.000 7 1994 2014
dbSNP: rs80357258
rs80357258
BRCA1
2 1.000 0.200 17 43045712 missense variant T/C snv 0.700 0
dbSNP: rs397509295
rs397509295
BRCA1
2 0.925 0.200 17 43045729 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs1060505048
rs1060505048
BRCA1
3 0.925 0.200 17 43045736 frameshift variant T/- del 0.700 0
dbSNP: rs80357019
rs80357019
BRCA1
2 1.000 0.200 17 43045743 missense variant C/G snv 0.700 1.000 7 2001 2015
dbSNP: rs864622220
rs864622220
BRCA1
2 0.925 0.200 17 43045745 frameshift variant A/- del 0.700 0
dbSNP: rs80357721
rs80357721
BRCA1
3 0.925 0.200 17 43045749 frameshift variant T/- del 0.700 1.000 11 1996 2016
dbSNP: rs80357299
rs80357299
BRCA1
2 0.925 0.200 17 43045749 missense variant T/G snv 0.700 1.000 2 2010 2013
dbSNP: rs80356914
rs80356914
BRCA1
4 0.851 0.200 17 43045759 stop gained C/A;G;T snv 0.700 1.000 5 2010 2016
dbSNP: rs1135401888
rs1135401888
BRCA1
2 0.925 0.200 17 43045760 frameshift variant AC/- delins 0.700 0
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 19 1996 2018
dbSNP: rs41293465
rs41293465
BRCA1
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 1.000 26 1996 2016
dbSNP: rs397509291
rs397509291
BRCA1
2 0.925 0.200 17 43045767 frameshift variant G/-;GG;GGG delins 0.700 1.000 7 2000 2015
dbSNP: rs80357268
rs80357268
BRCA1
6 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.700 1.000 18 1998 2016
dbSNP: rs886040298
rs886040298
BRCA1
2 0.925 0.200 17 43045776 frameshift variant -/AA delins 0.700 0
dbSNP: rs80357582
rs80357582
BRCA1
2 0.925 0.200 17 43045778 frameshift variant G/- delins 0.700 0
dbSNP: rs768401297
rs768401297
BRCA1
2 0.925 0.200 17 43045784 frameshift variant -/C delins 4.0E-06 0.700 0
dbSNP: rs730881441
rs730881441
BRCA1
3 0.925 0.200 17 43045789 frameshift variant TCTGCCCA/- delins 0.700 1.000 3 2003 2011
dbSNP: rs80357973
rs80357973
BRCA1
4 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 1.000 11 1996 2016
dbSNP: rs80358048
rs80358048
BRCA1
2 0.925 0.200 17 43045803 splice acceptor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs398122699
rs398122699
BRCA1
2 0.925 0.200 17 43045804 splice acceptor variant T/A;C snv 0.700 1.000 3 2003 2016
dbSNP: rs80358009
rs80358009
BRCA1
3 0.925 0.200 17 43047641 splice donor variant A/C;G snv 0.700 1.000 2 2008 2015
dbSNP: rs80358145
rs80358145
BRCA1
3 0.925 0.200 17 43047642 splice donor variant C/T snv 7.0E-06 0.700 1.000 11 2001 2018