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
rs1135401927
BRCA2
0.882 0.200 13 32376691 frameshift variant -/A delins 4
rs1555283256
BRCA2
0.925 0.200 13 32337816 frameshift variant C/- delins 2
rs1555460445
PALB2
0.925 0.200 16 23629936 stop gained G/A snv 3
rs1555461618
PALB2
0.925 0.200 16 23635743 frameshift variant -/TA delins 2
rs1555461870
PALB2
0.925 0.200 16 23636317 frameshift variant AT/- delins 2
rs1800747
BRCA1
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv 5
rs180177126
PALB2
0.925 0.200 16 23623044 frameshift variant TT/- delins 3
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs273900730
BRCA1
0.882 0.200 17 43076579 frameshift variant TAG/AA delins 4
rs276174853
BRCA2
0.882 0.200 13 32339467 frameshift variant AATA/- delins 4
rs397507389
BRCA2
0.882 0.200 13 32357741 splice acceptor variant G/A;C snv 4
rs397507404
BRCA2
0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 10
rs397507411
BRCA2
0.882 0.200 13 32376732 stop gained C/T snv 4
rs397507637
BRCA2
0.882 0.200 13 32337056 frameshift variant C/- del 3
rs397507758
BRCA2
0.807 0.200 13 32339456 stop gained C/T snv 6
rs397507912
BRCA2
0.882 0.200 13 32355219 stop gained C/G;T snv 4
rs397508058
BRCA2
0.882 0.200 13 32394934 splice donor variant G/A;T snv 3
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
rs397515636
BRCA2
0.882 0.200 13 32338329 frameshift variant -/TGCT delins 4
rs41293477
BRCA2
0.851 0.200 13 32337513 stop gained T/G snv 7.0E-06 5
rs41293511
BRCA2
0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 10
rs45553935
BRCA1
0.851 0.200 17 43057122 missense variant A/C;G;T snv 7