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: rs80357915
rs80357915
BRCA1
3 0.925 0.200 17 43074394 frameshift variant -/C ins 0.700 1.000 4 2003 2016
dbSNP: rs1057518636
rs1057518636
BRCA1
3 1.000 17 43047646 frameshift variant -/A ins 0.700 0
dbSNP: rs1555591850
rs1555591850
BRCA1
1 17 43094167 frameshift variant -/A ins 0.700 0
dbSNP: rs397508867
rs397508867
BRCA1
2 1.000 0.200 17 43094140 frameshift variant -/C ins 0.700 0
dbSNP: rs397509302
rs397509302
BRCA1
1 17 43095891 frameshift variant -/TGGCTCCTGATTTCATCCCT;TGGTTCCTGATTTCATCCCT ins 0.700 0
dbSNP: rs587782824
rs587782824
BRCA1
1 17 43091951 frameshift variant -/A ins 0.700 0
dbSNP: rs80357928
rs80357928
BRCA1
3 0.925 0.200 17 43091769 frameshift variant -/A;AA ins 0.700 0
dbSNP: rs876659396
rs876659396
BRCA1
1 17 43094425 frameshift variant -/GA ins 0.700 0
dbSNP: rs786203663
rs786203663
BRCA1
3 0.925 0.200 17 43049164 missense variant CCACA/TCACT mnv 0.700 1.000 5 2004 2017
dbSNP: rs1064793054
rs1064793054
BRCA1
2 1.000 0.200 17 43104172 stop gained TGT/AGA mnv 0.700 0
dbSNP: rs273899692
rs273899692
BRCA1
2 1.000 17 43092535 stop gained AG/TA mnv 0.700 0
dbSNP: rs80357509
rs80357509
BRCA1
4 0.882 0.200 17 43092046 frameshift variant T/- del 4.0E-06 7.0E-06 0.700 1.000 20 1997 2017
dbSNP: rs80357970
rs80357970
BRCA1
4 0.882 0.200 17 43093056 frameshift variant G/- del 4.0E-06 1.4E-05 0.700 1.000 18 1995 2014
dbSNP: rs80357919
rs80357919
BRCA1
3 0.925 0.200 17 43094685 frameshift variant TGAG/- del 0.700 1.000 10 1998 2017
dbSNP: rs80357564
rs80357564
BRCA1
3 0.925 0.200 17 43091821 frameshift variant A/- del 0.700 1.000 9 1996 2013
dbSNP: rs80357678
rs80357678
BRCA1
5 0.851 0.200 17 43091614 frameshift variant AA/- del 0.700 1.000 9 1996 2016
dbSNP: rs80357872
rs80357872
BRCA1
3 0.925 0.200 17 43099808 frameshift variant G/- del 4.0E-06 7.0E-06 0.700 1.000 9 1999 2016
dbSNP: rs80359876
rs80359876
BRCA1
5 0.851 0.200 17 43070932 frameshift variant TCTTCTGGGGTCAGGCCAG/- del 0.700 1.000 8 1997 2016
dbSNP: rs80357786
rs80357786
BRCA1
3 0.925 0.200 17 43093232 frameshift variant T/- del 0.700 1.000 7 1999 2016
dbSNP: rs80357510
rs80357510
BRCA1
3 0.925 0.200 17 43092501 frameshift variant AG/- del 0.700 1.000 6 2007 2017
dbSNP: rs80357664
rs80357664
BRCA1
4 0.882 0.200 17 43093119 frameshift variant CT/- del 0.700 1.000 6 2005 2017
dbSNP: rs273901751
rs273901751
BRCA1
3 0.925 0.200 17 43063331 splice donor variant A/- del 0.700 1.000 5 1995 2014
dbSNP: rs80357808
rs80357808
BRCA1
2 1.000 17 43092089 frameshift variant C/- del 4.0E-06 0.700 1.000 5 2008 2018
dbSNP: rs1060505048
rs1060505048
BRCA1
3 0.925 0.200 17 43045736 frameshift variant T/- del 0.700 1.000 4 2008 2014
dbSNP: rs273899695
rs273899695
BRCA1
3 0.925 0.200 17 43104263 splice acceptor variant T/- del 7.0E-06 0.700 1.000 4 1997 2006