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: rs730881473
rs730881473
BRCA1
3 0.925 0.080 17 43093817 stop gained C/A;G;T snv 0.700 0
dbSNP: rs730882166
rs730882166
BRCA1
4 0.882 0.200 17 43067625 missense variant T/C;G snv 0.700 0
dbSNP: rs80356880
rs80356880
BRCA1
5 0.851 0.080 17 43115750 missense variant G/C;T snv 0.700 0
dbSNP: rs80356885
rs80356885
BRCA1
6 0.827 0.200 17 43074482 stop gained C/T snv 0.700 0
dbSNP: rs80356935
rs80356935
BRCA1
3 0.882 0.200 17 43094472 stop gained C/G;T snv 0.700 0
dbSNP: rs80356937
rs80356937
BRCA1
4 0.882 0.200 17 43057117 stop gained C/A;T snv 0.700 0
dbSNP: rs80356938
rs80356938
BRCA1
1 1.000 0.080 17 43070962 missense variant G/A snv 0.700 0
dbSNP: rs80356953
rs80356953
BRCA1
4 0.851 0.200 17 43074519 stop gained G/C;T snv 0.700 0
dbSNP: rs80356962
rs80356962
BRCA1
8 0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs80356978
rs80356978
BRCA1
7 0.827 0.200 17 43092809 stop gained C/A;T snv 0.700 0
dbSNP: rs80356991
rs80356991
BRCA1
6 0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05 0.700 0
dbSNP: rs80357001
rs80357001
BRCA1
1 1.000 0.080 17 43094839 missense variant G/A snv 4.4E-05 7.0E-05 0.700 0
dbSNP: rs80357015
rs80357015
BRCA1
1 1.000 0.080 17 43094495 missense variant G/A;C snv 1.8E-04 0.700 0
dbSNP: rs80357082
rs80357082
BRCA1
4 0.882 0.200 17 43093496 stop gained T/A snv 0.700 0
dbSNP: rs80357114
rs80357114
BRCA1
1 1.000 0.080 17 43093286 missense variant C/A;G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs80357123
rs80357123
BRCA1
7 0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05 0.700 0
dbSNP: rs80357202
rs80357202
BRCA1
4 0.851 0.080 17 43091477 stop gained C/A;G;T snv 2.4E-05 0.700 0
dbSNP: rs80357215
rs80357215
BRCA1
4 0.882 0.200 17 43094465 stop gained G/A snv 0.700 0
dbSNP: rs80357239
rs80357239
BRCA1
4 0.882 0.200 17 43063372 stop gained C/A;T snv 0.700 0
dbSNP: rs80357244
rs80357244
BRCA1
1 1.000 0.080 17 43094720 missense variant C/A;G;T snv 4.0E-06; 9.2E-05 0.700 0
dbSNP: rs80357250
rs80357250
BRCA1
1 1.000 0.080 17 43093529 missense variant G/A snv 3.2E-05 1.0E-04 0.700 0
dbSNP: rs80357350
rs80357350
BRCA1
5 0.827 0.200 17 43104928 stop gained G/A;C snv 0.700 0
dbSNP: rs80357366
rs80357366
BRCA1
4 0.882 0.200 17 43074403 stop gained C/A;T snv 0.700 0
dbSNP: rs80357418
rs80357418
BRCA1
4 0.882 0.200 17 43063890 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs80357433
rs80357433
BRCA1
5 0.851 0.200 17 43071225 stop gained G/A;C snv 4.0E-06 1.4E-05 0.700 0