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: rs55770810
rs55770810
BRCA1
7 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.800 0
dbSNP: rs80356898
rs80356898
BRCA1
9 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs80357233
rs80357233
BRCA1
4 0.882 0.200 17 43093393 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs80357438
rs80357438
BRCA1 ; NBR2
4 0.851 0.200 17 43124032 stop gained A/G;T snv 0.700 0
dbSNP: rs80357669
rs80357669
BRCA1
5 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 0
dbSNP: rs80357828
rs80357828
BRCA1
3 0.882 0.200 17 43092155 frameshift variant GA/- delins 0.700 0