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: rs80357287
rs80357287
BRCA1 ; NBR2
5 0.882 0.200 17 43124096 start lost T/C snv 0.700 0
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
6 0.827 0.200 17 43124094 start lost C/A;G;T snv 0.700 1.000 9 1997 2014
dbSNP: rs80357134
rs80357134
BRCA1 ; NBR2
3 0.882 0.200 17 43124063 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 7 2002 2016
dbSNP: rs80357530
rs80357530
BRCA1 ; NBR2
3 0.925 0.200 17 43124057 frameshift variant CATT/- del 0.700 0
dbSNP: rs730881457
rs730881457
BRCA1 ; NBR2
2 0.925 0.200 17 43124052 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs80359871
rs80359871
BRCA1 ; NBR2
3 0.925 0.200 17 43124050 frameshift variant TTAATGACATTTTGTACTTCTTCAACGCG/- del 0.700 0
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
5 0.851 0.200 17 43124032 stop gained A/G;T snv 0.700 1.000 6 1998 2016
dbSNP: rs1567823254
rs1567823254
BRCA1 ; NBR2
1 1.000 0.200 17 43124031 frameshift variant -/TA ins 0.700 1.000 1 2006 2006
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
6 0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06 0.700 1.000 8 1995 2015
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
7 0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 0.700 1.000 22 1994 2018
dbSNP: rs80357410
rs80357410
BRCA1 ; NBR2
2 0.925 0.200 17 43124027 missense variant A/G snv 2.3E-04 0.700 1.000 6 2004 2015
dbSNP: rs80357696
rs80357696
BRCA1 ; NBR2
3 0.925 0.200 17 43124017 frameshift variant AGATGGGACAC/- delins 0.700 1.000 6 1990 2015
dbSNP: rs80358010
rs80358010
BRCA1 ; NBR2
4 0.882 0.200 17 43124016 splice donor variant C/A;G;T snv 0.700 1.000 2 2010 2015
dbSNP: rs397509326
rs397509326
BRCA1
3 0.925 0.200 17 43115781 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs80358018
rs80358018
BRCA1
3 0.925 0.200 17 43115780 splice acceptor variant C/G;T snv 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs397509331
rs397509331
BRCA1
2 0.925 0.200 17 43115771 stop gained A/T snv 0.700 0
dbSNP: rs80357066
rs80357066
BRCA1
1 1.000 0.200 17 43115763 stop gained C/A;G snv 0.700 0
dbSNP: rs80357750
rs80357750
BRCA1
8 0.790 0.200 17 43115759 frameshift variant G/- delins 0.700 0
dbSNP: rs886039922
rs886039922
BRCA1
2 0.925 0.200 17 43115758 frameshift variant A/- del 0.700 1.000 1 2011 2011
dbSNP: rs80357949
rs80357949
BRCA1
3 0.925 0.200 17 43115747 frameshift variant TT/- delins 0.700 0
dbSNP: rs80357164
rs80357164
BRCA1
5 0.851 0.200 17 43115745 missense variant A/C;G;T snv 0.700 1.000 7 2004 2017
dbSNP: rs80357498
rs80357498
BRCA1
4 0.925 0.200 17 43115744 missense variant C/A;T snv 0.700 0
dbSNP: rs886040898
rs886040898
BRCA1
6 0.827 0.200 17 43115743 stop gained A/C;T snv 0.700 1.000 4 2011 2015
dbSNP: rs80357276
rs80357276
BRCA1
3 0.925 0.200 17 43115738 missense variant T/A;C snv 0.700 1.000 7 2004 2015
dbSNP: rs80357943
rs80357943
BRCA1
2 0.925 0.200 17 43115736 frameshift variant T/- del 0.700 0