Gene: BRCA1 ×
Source: CLINVAR ×
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: rs41293459
rs41293459
BRCA1
4 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.700 1.000 33 2001 2019
dbSNP: rs45553935
rs45553935
BRCA1
4 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.700 1.000 26 2004 2019
dbSNP: rs80357132
rs80357132
BRCA1
1 1.000 0.200 17 43063888 missense variant A/G snv 4.0E-06; 4.0E-06 0.700 1.000 13 1995 2019
dbSNP: rs80357086
rs80357086
BRCA1
4 0.851 0.200 17 43106480 stop gained A/G;T snv 0.710 1.000 10 1995 2019
dbSNP: rs80358108
rs80358108
BRCA1
3 0.925 0.200 17 43094862 splice acceptor variant T/A;C;G snv 4.2E-06 0.700 1.000 8 2003 2019
dbSNP: rs80357150
rs80357150
BRCA1
3 0.925 0.200 17 43106528 missense variant C/A;T snv 0.700 1.000 22 1996 2018
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: rs80356959
rs80356959
BRCA1
3 0.851 0.200 17 43045761 missense variant A/C;G snv 0.700 1.000 19 1996 2018
dbSNP: rs80356862
rs80356862
BRCA1
3 0.925 0.200 17 43071046 missense variant G/C snv 4.0E-06 0.700 1.000 15 2003 2018
dbSNP: rs80358145
rs80358145
BRCA1
3 0.925 0.200 17 43047642 splice donor variant C/T snv 7.0E-06 0.700 1.000 11 2001 2018
dbSNP: rs80357580
rs80357580
BRCA1
4 0.925 0.200 17 43067649 stop gained GTTA/-;GTTAGTTA delins 7.0E-06 0.700 1.000 10 1997 2018
dbSNP: rs80358094
rs80358094
BRCA1
4 0.882 0.200 17 43063873 splice donor variant C/A;G;T snv 0.700 1.000 9 1998 2018
dbSNP: rs80358087
rs80358087
BRCA1
3 0.925 0.200 17 43070924 splice region variant T/A;C;G snv 0.700 1.000 7 2005 2018
dbSNP: rs80357063
rs80357063
BRCA1
3 0.925 0.200 17 43093222 stop gained G/A;C;T snv 0.700 1.000 6 1998 2018
dbSNP: rs80357254
rs80357254
BRCA1
2 0.925 0.200 17 43091663 stop gained T/A;C snv 8.0E-06 0.700 1.000 5 2003 2018
dbSNP: rs80357385
rs80357385
BRCA1
2 0.925 0.200 17 43094390 stop gained T/A snv 0.700 1.000 5 1998 2018
dbSNP: rs80357461
rs80357461
BRCA1
3 0.925 0.200 17 43091627 stop gained C/A;T snv 0.700 1.000 5 2005 2018
dbSNP: rs80357516
rs80357516
BRCA1
4 0.882 0.200 17 43093653 frameshift variant -/ACTA delins 0.700 1.000 5 2002 2018
dbSNP: rs80358173
rs80358173
BRCA1
2 0.925 0.200 17 43057136 splice acceptor variant C/A;G;T snv 0.700 1.000 5 2001 2018
dbSNP: rs273901754
rs273901754
BRCA1
3 0.925 0.200 17 43057051 splice donor variant C/- delins 0.700 1.000 4 2005 2018
dbSNP: rs397507241
rs397507241
BRCA1
2 1.000 0.200 17 43063936 missense variant C/G;T snv 4.0E-06 0.700 1.000 4 2014 2018
dbSNP: rs80356857
rs80356857
BRCA1
3 0.925 0.200 17 43090944 missense variant C/G;T snv 0.700 1.000 4 2003 2018
dbSNP: rs397509164
rs397509164
BRCA1
3 0.925 0.200 17 43082422 frameshift variant -/TTCT delins 0.700 1.000 3 2012 2018
dbSNP: rs80357418
rs80357418
BRCA1
4 0.882 0.200 17 43063890 stop gained C/T snv 8.0E-06 0.700 1.000 3 2003 2018
dbSNP: rs80357785
rs80357785
BRCA1
2 0.925 0.200 17 43092179 frameshift variant -/A delins 0.700 1.000 3 2012 2018