Gene: BRCA1 ×
Source: ALL
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: rs1799950
rs1799950
BRCA1
13 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 0.020 1.000 2 2007 2012
dbSNP: rs28897672
rs28897672
BRCA1
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs80357382
rs80357382
BRCA1
11 0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.010 1.000 1 2007 2007
dbSNP: rs8176305
rs8176305
BRCA1
2 0.925 0.080 17 43049347 intron variant T/C snv 5.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs886040226
rs886040226
BRCA1
3 0.882 0.080 17 43082412 stop gained G/A;C snv 0.010 1.000 1 2018 2018