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
rs587780024
BARD1
0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins 3
rs587780021
BARD1
0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 6
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
rs118203998
PALB2
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 11
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 11
rs180177126
PALB2
0.925 0.200 16 23623044 frameshift variant TT/- delins 3
rs767633741
PALB2
0.925 0.200 16 23626377 frameshift variant G/-;GG delins 3
rs180177110
PALB2
0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05 4
rs1555460445
PALB2
0.925 0.200 16 23629936 stop gained G/A snv 3
rs587776416
PALB2
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 5
rs180177100
PALB2
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 6
rs375699023
PALB2
0.925 0.200 16 23635504 stop gained G/A;T snv 4.0E-05 3
rs786203821
PALB2
0.925 0.200 16 23635606 stop gained G/A snv 1.4E-05 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
rs180177083
PALB2
0.925 0.200 16 23637865 stop gained G/A;T snv 8.0E-06; 4.0E-06 3
rs61764370
KRAS
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs200432447
CHEK2
0.925 0.200 22 28687974 stop gained G/A;C snv 4.3E-06 4
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 16
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 7
rs587781699
CHEK2
0.925 0.200 22 28703504 splice donor variant C/A;G;T snv 3
rs587782471
CHEK2
0.851 0.240 22 28711994 missense variant A/G;T snv 3.5E-04; 8.0E-06 4