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: rs80357609
rs80357609
BRCA1
5 0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 0.700 1.000 10 1995 2016
dbSNP: rs80357688
rs80357688
BRCA1
3 0.925 0.200 17 43093460 frameshift variant TT/-;T delins 0.700 1.000 10 1998 2015
dbSNP: rs80357727
rs80357727
BRCA1
3 0.925 0.200 17 43091489 frameshift variant CT/- delins 7.0E-06 0.700 1.000 10 1998 2016
dbSNP: rs80357888
rs80357888
BRCA1
5 0.882 0.200 17 43094023 frameshift variant ATTTA/- delins 0.700 1.000 10 1997 2016
dbSNP: rs80357919
rs80357919
BRCA1
3 0.925 0.200 17 43094685 frameshift variant TGAG/- del 0.700 1.000 10 1998 2017
dbSNP: rs80357971
rs80357971
BRCA1
3 0.925 0.200 17 43092849 frameshift variant TT/-;T delins 7.0E-06 0.700 1.000 10 1994 2016
dbSNP: rs80358047
rs80358047
BRCA1
3 0.925 0.200 17 43099773 splice donor variant A/T snv 0.700 1.000 10 1997 2017
dbSNP: rs80358150
rs80358150
BRCA1
3 0.925 0.200 17 43057051 splice donor variant C/A;G;T snv 0.700 1.000 10 2001 2015
dbSNP: rs397509335
rs397509335
BRCA1
3 0.925 0.200 17 43094607 frameshift variant GCT/A delins 0.700 1.000 9 2004 2017
dbSNP: rs45553935
rs45553935
BRCA1
7 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.700 1.000 9 2004 2017
dbSNP: rs80357424
rs80357424
BRCA1
3 0.925 0.200 17 43092353 stop gained C/A;G snv 0.700 1.000 9 1989 2017
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: rs80357564
rs80357564
BRCA1
3 0.925 0.200 17 43091821 frameshift variant A/- del 0.700 1.000 9 1996 2013
dbSNP: rs80357580
rs80357580
BRCA1
4 0.925 0.200 17 43067649 stop gained GTTA/-;GTTAGTTA delins 7.0E-06 0.700 1.000 9 1997 2016
dbSNP: rs80357678
rs80357678
BRCA1
5 0.851 0.200 17 43091614 frameshift variant AA/- del 0.700 1.000 9 1996 2016
dbSNP: rs80357877
rs80357877
BRCA1
4 0.882 0.200 17 43092040 frameshift variant AGTATCTTCCT/- delins 0.700 1.000 9 1995 2018
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: rs80358145
rs80358145
BRCA1
3 0.925 0.200 17 43047642 splice donor variant C/T snv 7.0E-06 0.700 1.000 9 2001 2018
dbSNP: rs80356857
rs80356857
BRCA1
3 0.925 0.200 17 43090944 missense variant C/G;T snv 0.700 1.000 8 1995 2013
dbSNP: rs80356885
rs80356885
BRCA1
6 0.827 0.200 17 43074482 stop gained C/T snv 0.700 1.000 8 2001 2017
dbSNP: rs80356929
rs80356929
BRCA1 ; NBR2
3 0.925 0.080 17 43124044 missense variant A/C;G;T snv 0.700 1.000 8 1996 2016
dbSNP: rs80356974
rs80356974
BRCA1
3 0.925 0.200 17 43063917 stop gained A/C;G snv 0.700 1.000 8 2001 2015
dbSNP: rs80357082
rs80357082
BRCA1
4 0.882 0.200 17 43093496 stop gained T/A snv 0.700 1.000 8 1997 2014
dbSNP: rs80357524
rs80357524
BRCA1
3 0.925 0.200 17 43093098 frameshift variant G/-;GG delins 0.700 1.000 8 2005 2015
dbSNP: rs80357572
rs80357572
BRCA1
4 0.882 0.200 17 43090963 frameshift variant CT/-;CTCT delins 0.700 1.000 8 1996 2016