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: rs80357477
rs80357477
BRCA1
3 0.925 0.200 17 43047657 missense variant T/C snv 0.700 1.000 6 2004 2012
dbSNP: rs397509286
rs397509286
BRCA1
3 0.925 0.200 17 43047659 frameshift variant CT/- delins 0.700 0
dbSNP: rs397509284
rs397509284
BRCA1
3 0.925 0.200 17 43047665 stop gained C/T snv 4.0E-06 0.700 0
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 8 1996 2014
dbSNP: rs397509283
rs397509283
BRCA1
2 0.925 0.200 17 43047679 stop gained G/A snv 0.700 1.000 2 2012 2015
dbSNP: rs1135401887
rs1135401887
BRCA1
1 1.000 0.200 17 43047679 frameshift variant -/TC delins 0.700 0
dbSNP: rs1555574739
rs1555574739
BRCA1
2 0.925 0.200 17 43047682 frameshift variant -/A delins 0.700 1.000 4 2001 2015
dbSNP: rs80357934
rs80357934
BRCA1
2 0.925 0.200 17 43047691 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs80358029
rs80358029
BRCA1
2 0.925 0.200 17 43047704 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs1555575073
rs1555575073
BRCA1
1 1.000 0.200 17 43049114 splice donor variant TACT/- delins 0.700 0
dbSNP: rs80357055
rs80357055
BRCA1
3 0.925 0.200 17 43049140 stop gained G/A;T snv 0.700 1.000 3 2005 2013
dbSNP: rs776323117
rs776323117
BRCA1
2 0.925 0.200 17 43049147 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1555575142
rs1555575142
BRCA1
1 1.000 0.200 17 43049161 frameshift variant GC/T delins 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 20 1998 2016
dbSNP: rs786203663
rs786203663
BRCA1
3 0.925 0.200 17 43049164 missense variant CCACA/TCACT mnv 0.700 1.000 15 1998 2016
dbSNP: rs80356969
rs80356969
BRCA1
3 0.925 0.200 17 43049174 stop gained G/A snv 0.700 1.000 3 2006 2016
dbSNP: rs80357744
rs80357744
BRCA1
2 0.925 0.200 17 43049174 frameshift variant -/T delins 0.700 0
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 2 1997 2003
dbSNP: rs80357694
rs80357694
BRCA1
2 0.925 0.200 17 43049186 frameshift variant C/- delins 0.700 0
dbSNP: rs80357474
rs80357474
BRCA1
5 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.700 0
dbSNP: rs80357590
rs80357590
BRCA1
3 0.925 0.200 17 43049192 frameshift variant G/- del 4.0E-06 0.700 1.000 7 2002 2016
dbSNP: rs80358126
rs80358126
BRCA1
3 0.882 0.200 17 43049195 splice acceptor variant C/A;G;T snv 0.700 1.000 2 2010 2012
dbSNP: rs397509265
rs397509265
BRCA1
2 0.925 0.200 17 43049197 splice region variant A/C snv 0.700 0
dbSNP: rs1555575231
rs1555575231
BRCA1
1 1.000 0.200 17 43049216 intron variant AAATCACTGCAGTAA/- delins 0.700 0