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: rs80357055
rs80357055
BRCA1
3 0.925 0.200 17 43049140 stop gained G/A;T snv 0.700 1.000 2 2013 2015
dbSNP: rs80357078
rs80357078
BRCA1
2 1.000 0.080 17 43049162 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs80357069
rs80357069
BRCA1
4 0.882 0.200 17 43049164 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 13 1998 2016
dbSNP: rs786203663
rs786203663
BRCA1
3 0.925 0.200 17 43049164 missense variant CCACA/TCACT mnv 0.700 1.000 5 2004 2017
dbSNP: rs397509271
rs397509271
BRCA1
1 17 43049165 missense variant C/A snv 0.700 1.000 2 2004 2012
dbSNP: rs886040294
rs886040294
BRCA1
2 1.000 17 43049165 frameshift variant CA/- delins 0.700 0
dbSNP: rs80357065
rs80357065
BRCA1
2 1.000 17 43049168 missense variant A/T snv 0.700 1.000 5 2004 2015
dbSNP: rs80356969
rs80356969
BRCA1
3 0.925 0.200 17 43049174 stop gained G/A snv 0.700 1.000 2 2006 2007
dbSNP: rs80357284
rs80357284
BRCA1
3 0.925 0.200 17 43049181 stop gained C/T snv 0.700 1.000 2 1997 2008
dbSNP: rs80357219
rs80357219
BRCA1
3 0.925 0.200 17 43049182 stop gained C/T snv 0.700 1.000 4 2002 2015
dbSNP: rs80357590
rs80357590
BRCA1
3 0.925 0.200 17 43049192 frameshift variant G/- del 4.0E-06 0.700 1.000 3 2002 2012
dbSNP: rs397509267
rs397509267
BRCA1
2 1.000 17 43049192 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs397509264
rs397509264
BRCA1
2 1.000 17 43049196 splice acceptor variant T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs80358041
rs80358041
BRCA1
3 0.925 0.200 17 43051062 splice donor variant C/A;G;T snv 4.0E-06 0.700 1.000 8 2009 2016
dbSNP: rs80357112
rs80357112
BRCA1
4 0.882 0.080 17 43051063 missense variant C/A;G;T snv 0.700 1.000 13 2004 2016
dbSNP: rs80357751
rs80357751
BRCA1
2 1.000 17 43051067 frameshift variant G/-;GG delins 0.700 1.000 1 2014 2014
dbSNP: rs41293463
rs41293463
BRCA1
9 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.700 1.000 14 1994 2017
dbSNP: rs80357818
rs80357818
BRCA1
3 0.925 0.200 17 43051074 frameshift variant TT/- del 0.700 0
dbSNP: rs80357823
rs80357823
BRCA1
3 0.925 0.200 17 43051075 frameshift variant -/G delins 0.700 1.000 2 1994 2015
dbSNP: rs587781825
rs587781825
BRCA1
2 1.000 17 43051084 frameshift variant GC/- del 0.700 0
dbSNP: rs1555575732
rs1555575732
BRCA1
1 17 43051098 frameshift variant -/T delins 0.700 0
dbSNP: rs80357463
rs80357463
BRCA1
4 0.882 0.200 17 43051098 missense variant A/C;T snv 0.700 0
dbSNP: rs397509256
rs397509256
BRCA1
2 1.000 17 43051102 stop gained C/A snv 0.700 0
dbSNP: rs80357281
rs80357281
BRCA1
4 0.882 0.200 17 43051104 missense variant A/G snv 0.700 1.000 11 2004 2016
dbSNP: rs80356905
rs80356905
BRCA1
1 17 43051113 missense variant A/C;G snv 0.700 1.000 5 2000 2010