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
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
rs770641163
ATM ; C11orf65
0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 4
rs61764370
KRAS
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs1135401927
BRCA2
0.882 0.200 13 32376691 frameshift variant -/A delins 4
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs1555283256
BRCA2
0.925 0.200 13 32337816 frameshift variant C/- delins 2
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
rs28897743
BRCA2
0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 8
rs28897756
BRCA2
0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 11
rs28897759
BRCA2
0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 5
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
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
rs397508045
BRCA2
0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06 9
rs397508058
BRCA2
0.882 0.200 13 32394934 splice donor variant G/A;T snv 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