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: rs1555576921
rs1555576921
BRCA1
1 17 43057092 coding sequence variant -/GGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAA delins 0.700 0
dbSNP: rs80358344
rs80358344
BRCA1
3 0.925 0.200 17 43067618 inframe deletion ACA/- delins 0.700 1.000 16 1996 2016
dbSNP: rs80358345
rs80358345
BRCA1
2 1.000 17 43063946 inframe deletion GCA/- delins 0.700 1.000 4 2003 2014
dbSNP: rs80357064
rs80357064
BRCA1
4 0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05 0.700 1.000 16 1994 2015
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
6 0.827 0.200 17 43124094 start lost C/A;G;T snv 0.700 1.000 9 1996 2015
dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
5 0.882 0.200 17 43124096 start lost T/C snv 0.700 1.000 5 2002 2014
dbSNP: rs80357111
rs80357111
BRCA1 ; NBR2
2 1.000 17 43124095 start lost A/C;G snv 0.700 0
dbSNP: rs80358083
rs80358083
BRCA1
3 0.925 0.200 17 43106453 splice region variant T/A;C snv 7.0E-06 0.700 1.000 12 1997 2014
dbSNP: rs80358087
rs80358087
BRCA1
3 0.925 0.200 17 43070924 splice region variant T/A;C;G snv 0.700 1.000 9 1999 2014
dbSNP: rs80358023
rs80358023
BRCA1
3 0.925 0.200 17 43070925 splice region variant C/G snv 0.700 1.000 7 1999 2015
dbSNP: rs80358073
rs80358073
BRCA1
2 1.000 17 43049116 splice region variant C/A;G;T snv 0.700 1.000 5 1997 2014
dbSNP: rs80358045
rs80358045
BRCA1 ; NBR2
2 1.000 17 43124012 splice region variant C/A;G;T snv 0.700 0
dbSNP: rs80358051
rs80358051
BRCA1
2 1.000 17 43104264 splice region variant G/C snv 0.700 0
dbSNP: rs80358082
rs80358082
BRCA1
3 0.925 0.200 17 43074328 splice region variant T/A;C snv 0.700 0
dbSNP: rs80358086
rs80358086
BRCA1
3 0.925 0.200 17 43070922 splice region variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs80358158
rs80358158
BRCA1
3 0.925 0.200 17 43106534 splice acceptor variant C/A;G;T snv 4.0E-06 0.700 1.000 10 1997 2016
dbSNP: rs80358099
rs80358099
BRCA1
3 0.925 0.200 17 43051118 splice acceptor variant C/A;G;T snv 4.0E-06 0.700 1.000 9 1997 2018
dbSNP: rs80357973
rs80357973
BRCA1
4 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 1.000 8 2004 2016
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
dbSNP: rs80358054
rs80358054
BRCA1
3 0.925 0.200 17 43074523 splice acceptor variant T/A;C;G snv 0.700 1.000 4 1997 2015
dbSNP: rs80358069
rs80358069
BRCA1
4 0.882 0.200 17 43057137 splice acceptor variant T/C;G snv 4.0E-06 0.700 1.000 4 2001 2014
dbSNP: rs273901746
rs273901746
BRCA1
4 0.882 0.200 17 43063375 splice acceptor variant T/- del 0.700 1.000 3 2000 2012
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 3 1999 2012
dbSNP: rs273902791
rs273902791
BRCA1
2 1.000 17 43115781 splice acceptor variant T/- del 0.700 1.000 1 2004 2004
dbSNP: rs80358008
rs80358008
BRCA1
3 0.925 0.200 17 43071239 splice acceptor variant C/A;G;T snv 0.700 1.000 1 2015 2015