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
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06 4
rs80358079
BRCA1
0.827 0.200 17 43057147 intron variant C/T snv 6
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs118203998
PALB2
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 11
rs1555460445
PALB2
0.925 0.200 16 23629936 stop gained G/A snv 3
rs180177083
PALB2
0.925 0.200 16 23637865 stop gained G/A;T snv 8.0E-06; 4.0E-06 3
rs180177100
PALB2
0.827 0.400 16 23635306 stop gained G/A snv 8.0E-06 1.4E-05 6
rs180177110
PALB2
0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05 4
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 11
rs200432447
CHEK2
0.925 0.200 22 28687974 stop gained G/A;C snv 4.3E-06 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
rs375699023
PALB2
0.925 0.200 16 23635504 stop gained G/A;T snv 4.0E-05 3
rs397507411
BRCA2
0.882 0.200 13 32376732 stop gained C/T snv 4
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
rs397509171
BRCA1
0.851 0.200 17 43076573 stop gained G/A snv 4
rs41293455
BRCA1
0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05 6
rs41293465
BRCA1
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 6
rs41293477
BRCA2
0.851 0.200 13 32337513 stop gained T/G snv 7.0E-06 5
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 14
rs575595017
BRIP1
0.882 0.280 17 61859808 stop gained G/A snv 1.2E-05 4
rs587779358
BRCA2
0.925 0.200 13 32333295 stop gained CGA/TTT mnv 3
rs587780021
BARD1
0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 6