Disease: Hereditary Breast and Ovarian Cancer Syndrome
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770641163
ATM ; C11orf65
0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 4
rs587780021
BARD1
0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 6
rs587780024
BARD1
0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins 3
rs796666047
BARD1
0.925 0.200 2 214780669 stop gained G/C;T snv 8.0E-06 3
rs879254139
BARD1
0.925 0.200 2 214797118 splice acceptor variant C/A;T snv 3
rs1800747
BRCA1
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv 5
rs273900730
BRCA1
0.882 0.200 17 43076579 frameshift variant TAG/AA delins 4
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 16
rs28897686
BRCA1
0.882 0.200 17 43091783 stop gained C/A;T snv 8.0E-06; 2.0E-04 4
rs28897696
BRCA1
0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 11
rs387906563
BRCA1
0.882 0.200 17 43094706 frameshift variant -/GCTCCACATG delins 6.0E-05; 4.0E-06 4
rs397508986
BRCA1
0.807 0.280 17 43092919 frameshift variant G/AA delins 9
rs397509067
BRCA1
0.882 0.200 17 43092092 frameshift variant AAAC/- delins 4
rs397509171
BRCA1
0.851 0.200 17 43076573 stop gained G/A snv 4
rs397509312
BRCA1
0.882 0.200 17 43094794 frameshift variant A/- delins 3
rs41293455
BRCA1
0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 6
rs41293459
BRCA1
0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 12
rs41293463
BRCA1
0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 9
rs41293465
BRCA1
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 6
rs45553935
BRCA1
0.851 0.200 17 43057122 missense variant A/C;G;T snv 7
rs55770810
BRCA1
0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 10
rs587782190
BRCA1
0.882 0.200 17 43091731 stop gained A/C;G snv 7.0E-06 3
rs62625307
BRCA1
0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06 8
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 8
rs730882166
BRCA1
0.882 0.200 17 43067625 missense variant T/C;G snv 4