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: rs80357389
rs80357389
BRCA1
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 17 1997 2014
dbSNP: rs80357635
rs80357635
BRCA1
4 0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06 0.700 1.000 17 1998 2016
dbSNP: rs55770810
rs55770810
BRCA1
7 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 1.000 16 2001 2017
dbSNP: rs80356860
rs80356860
BRCA1
3 0.882 0.200 17 43063909 missense variant C/G;T snv 4.8E-05 0.700 1.000 16 2000 2016
dbSNP: rs80357711
rs80357711
BRCA1
4 0.882 0.200 17 43091496 frameshift variant T/- delins 4.2E-05 0.700 1.000 16 1996 2014
dbSNP: rs80357724
rs80357724
BRCA1
4 0.925 0.200 17 43094732 frameshift variant AA/-;A;AAA delins 0.700 1.000 16 1990 2016
dbSNP: rs786203663
rs786203663
BRCA1
3 0.925 0.200 17 43049164 missense variant CCACA/TCACT mnv 0.700 1.000 15 1998 2016
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: rs80356937
rs80356937
BRCA1
3 0.882 0.200 17 43057117 stop gained C/A;T snv 0.700 1.000 15 2000 2014
dbSNP: rs80357906
rs80357906
BRCA1
7 0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 0.700 1.000 15 1994 2013
dbSNP: rs80358061
rs80358061
BRCA1
4 0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06 0.700 1.000 15 1994 2015
dbSNP: rs80357868
rs80357868
BRCA1
5 0.851 0.200 17 43091772 frameshift variant GACA/- delins 1.4E-05 0.700 1.000 14 1994 2016
dbSNP: rs28897686
rs28897686
BRCA1
4 0.882 0.200 17 43091783 stop gained C/A;T snv 8.0E-06; 2.0E-04 0.700 1.000 13 1994 2015
dbSNP: rs80356991
rs80356991
BRCA1
4 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.700 1.000 13 1997 2016
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: rs80357688
rs80357688
BRCA1
3 0.925 0.200 17 43093460 frameshift variant TT/-;T delins 0.700 1.000 13 1998 2015
dbSNP: rs80358027
rs80358027
BRCA1
3 0.925 0.200 17 43082403 splice donor variant C/A;G;T snv 4.0E-06 0.700 1.000 13 2004 2016
dbSNP: rs80358150
rs80358150
BRCA1
3 0.925 0.200 17 43057051 splice donor variant C/A;G;T snv 0.700 1.000 13 2001 2014
dbSNP: rs80358163
rs80358163
BRCA1
4 0.882 0.200 17 43104968 intron variant T/C snv 0.700 1.000 13 1998 2015
dbSNP: rs80359874
rs80359874
BRCA1
3 0.925 0.200 17 43094317 frameshift variant ATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACAG/- delins 0.700 1.000 13 1994 2015
dbSNP: rs80359876
rs80359876
BRCA1
5 0.851 0.200 17 43070932 frameshift variant TCTTCTGGGGTCAGGCCAG/- del 0.700 1.000 13 1997 2016
dbSNP: rs387906563
rs387906563
BRCA1
4 0.882 0.200 17 43094706 frameshift variant -/GCTCCACATG delins 6.0E-05; 4.0E-06 0.700 1.000 12 1997 2017
dbSNP: rs80356885
rs80356885
BRCA1
6 0.827 0.200 17 43074482 stop gained C/T snv 0.700 1.000 12 2001 2016
dbSNP: rs80357669
rs80357669
BRCA1
5 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 1.000 12 1996 2016
dbSNP: rs80357867
rs80357867
BRCA1
4 0.882 0.200 17 43063346 frameshift variant CTTT/- delins 0.700 1.000 12 1997 2016