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: rs397508869
rs397508869
BRCA1
1 1.000 0.080 17 43094138 missense variant A/C snv 0.700 1.000 25 1994 2017
dbSNP: rs397508893
rs397508893
BRCA1
1 1.000 0.080 17 43093876 missense variant C/A;T snv 0.700 1.000 25 1994 2017
dbSNP: rs397508994
rs397508994
BRCA1
2 0.925 0.080 17 43092856 stop gained A/C;G snv 0.700 1.000 25 1994 2017
dbSNP: rs397509022
rs397509022
BRCA1
1 1.000 0.080 17 43092652 missense variant C/T snv 0.700 1.000 25 1994 2017
dbSNP: rs397509034
rs397509034
BRCA1
1 1.000 0.080 17 43092457 missense variant G/A snv 0.700 1.000 25 1994 2017
dbSNP: rs397509037
rs397509037
BRCA1
1 1.000 0.080 17 43092391 missense variant A/G snv 0.700 1.000 25 1994 2017
dbSNP: rs397509218
rs397509218
BRCA1
1 1.000 0.080 17 43067624 missense variant A/G;T snv 4.0E-06 0.700 1.000 25 1994 2017
dbSNP: rs397509238
rs397509238
BRCA1
1 1.000 0.080 17 43057126 missense variant C/T snv 0.700 1.000 25 1994 2017
dbSNP: rs397509246
rs397509246
BRCA1
1 1.000 0.080 17 43057071 missense variant C/G;T snv 0.700 1.000 25 1994 2017
dbSNP: rs397509275
rs397509275
BRCA1
1 1.000 0.080 17 43049145 missense variant C/A;G snv 1.2E-05 0.700 1.000 25 1994 2017
dbSNP: rs41293455
rs41293455
BRCA1
6 0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 0.800 1.000 25 1994 2017
dbSNP: rs80357034
rs80357034
BRCA1
5 0.882 0.200 17 43067610 missense variant G/A;C;T snv 0.700 1.000 25 1994 2017
dbSNP: rs80357389
rs80357389
BRCA1
4 0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 25 1994 2017
dbSNP: rs748876625
rs748876625
BRCA1
10 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.740 0.958 24 1994 2017
dbSNP: rs41293459
rs41293459
BRCA1
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.730 1.000 23 1994 2019
dbSNP: rs41293463
rs41293463
BRCA1
9 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.710 1.000 21 1994 2017
dbSNP: rs55971303
rs55971303
BRCA1
4 0.851 0.120 17 43104138 missense variant G/T snv 1.0E-04 4.2E-05 0.710 1.000 21 1994 2017
dbSNP: rs80356920
rs80356920
BRCA1
2 0.925 0.080 17 43047699 stop gained A/T snv 9.9E-05 2.0E-04 0.710 1.000 21 1994 2017
dbSNP: rs80357090
rs80357090
BRCA1
3 0.882 0.200 17 43097266 missense variant C/T snv 3.0E-04 2.2E-04 0.710 0.952 21 1994 2017
dbSNP: rs1450793674
rs1450793674
BRCA1
1 1.000 0.080 17 43091642 missense variant A/G;T snv 4.0E-06 0.700 1.000 20 1994 2017
dbSNP: rs397507232
rs397507232
BRCA1
1 1.000 0.080 17 43076516 missense variant T/A snv 4.0E-06 0.700 1.000 20 1994 2017
dbSNP: rs41293447
rs41293447
BRCA1
1 1.000 0.080 17 43092229 missense variant C/T snv 1.2E-04 6.2E-04 0.700 1.000 20 1994 2017
dbSNP: rs45553935
rs45553935
BRCA1
7 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.700 1.000 20 1994 2017
dbSNP: rs55688530
rs55688530
BRCA1
1 1.000 0.080 17 43097280 missense variant G/A;T snv 6.9E-04 0.700 1.000 20 1994 2017
dbSNP: rs55815649
rs55815649
BRCA1
1 1.000 0.080 17 43074406 missense variant C/T snv 3.9E-04 1.4E-03 0.700 1.000 20 1994 2017