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
rs180177083
PALB2
0.925 0.200 16 23637865 stop gained G/A;T snv 8.0E-06; 4.0E-06 3
rs180177110
PALB2
0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05 4
rs180177126
PALB2
0.925 0.200 16 23623044 frameshift variant TT/- delins 3
rs200432447
CHEK2
0.925 0.200 22 28687974 stop gained G/A;C snv 4.3E-06 4
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
rs276174900
BRCA2
0.882 0.200 13 32363204 stop gained A/G;T snv 2.0E-05 4
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
rs28897759
BRCA2
0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 5
rs375699023
PALB2
0.925 0.200 16 23635504 stop gained G/A;T snv 4.0E-05 3
rs387906563
BRCA1
0.882 0.200 17 43094706 frameshift variant -/GCTCCACATG delins 6.0E-05; 4.0E-06 4
rs397507389
BRCA2
0.882 0.200 13 32357741 splice acceptor variant G/A;C snv 4
rs397507411
BRCA2
0.882 0.200 13 32376732 stop gained C/T snv 4
rs397507419
BRCA2
0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06 7
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