Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 9
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 9
rs80356962
BRCA1
0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06 8
rs55770810
BRCA1
0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 7
rs80356978
BRCA1
0.827 0.200 17 43092809 stop gained C/A;T snv 7
rs80357123
BRCA1
0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05 7
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 7
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 7
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv 7
rs80357914
BRCA1 ; NBR2
0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 7
rs41293455
BRCA1
0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 6
rs41293465
BRCA1
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 6
rs62625307
BRCA1
0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06 6
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 6
rs80356885
BRCA1
0.827 0.200 17 43074482 stop gained C/T snv 6
rs80357440
BRCA1
0.827 0.200 17 43091638 stop gained G/A;C;T snv 4.0E-06 6
rs80357446
BRCA1
0.827 0.200 17 43115729 missense variant C/A;T snv 6
rs80358079
BRCA1
0.827 0.200 17 43057147 intron variant C/T snv 6
rs80358189
BRCA1
0.827 0.200 17 43074522 splice acceptor variant C/A;G;T snv 1.2E-05 6
rs886040898
BRCA1
0.827 0.200 17 43115743 stop gained A/C;T snv 6
rs80357475
BRCA1 ; NBR2
0.827 0.200 17 43124094 start lost C/A;G;T snv 6
rs80357783
NBR2 ; BRCA1
0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06 6
rs1800747
BRCA1
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv 5
rs273899698
BRCA1
0.851 0.080 17 43092434 stop gained C/A;T snv 5