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: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 1.000 29 1995 2015
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: 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: rs80357609
rs80357609
BRCA1
5 0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 0.700 1.000 20 1995 2016
dbSNP: rs55851803
rs55851803
BRCA1
3 0.925 0.200 17 43106477 splice donor variant C/G;T snv 0.700 1.000 19 1994 2014
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: rs80357061
rs80357061
BRCA1
3 0.882 0.200 17 43067616 missense variant A/C;G snv 0.700 1.000 18 2003 2016
dbSNP: rs80357701
rs80357701
BRCA1
4 0.925 0.200 17 43092197 frameshift variant GCTT/- delins 0.700 1.000 18 1996 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: rs80356937
rs80356937
BRCA1
3 0.882 0.200 17 43057117 stop gained C/A;T snv 0.700 1.000 15 2000 2014
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: rs80357688
rs80357688
BRCA1
3 0.925 0.200 17 43093460 frameshift variant TT/-;T delins 0.700 1.000 13 1998 2015
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: 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
dbSNP: rs80357919
rs80357919
BRCA1
3 0.925 0.200 17 43094685 frameshift variant TGAG/- del 0.700 1.000 12 1998 2014
dbSNP: rs80357941
rs80357941
BRCA1
3 0.925 0.200 17 43094855 frameshift variant A/- delins 0.700 1.000 12 1997 2016
dbSNP: rs80357997
rs80357997
BRCA1
3 0.925 0.200 17 43063889 frameshift variant C/-;CC delins 0.700 1.000 12 1995 2017