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: rs28897672
rs28897672
BRCA1
9 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.770 1.000 0 2005 2019
dbSNP: rs80356898
rs80356898
BRCA1
9 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.710 1.000 0 2003 2003
dbSNP: rs80357474
rs80357474
BRCA1
3 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.710 1.000 0 2017 2017
dbSNP: rs80357522
rs80357522
BRCA1
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 0
dbSNP: rs80357678
rs80357678
BRCA1
5 0.851 0.200 17 43091614 frameshift variant AA/- del 0.700 0