Disease: Neoplastic Syndromes, Hereditary
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587779834
ATM
0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05 3
rs587781894
ATM ; C11orf65
0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 3
rs273901746
BRCA1
0.882 0.200 17 43063375 splice acceptor variant T/- del 4
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 9
rs397507215
BRCA1
0.925 0.120 17 43092179 stop gained G/A snv 3
rs41293459
BRCA1
0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 4
rs41293465
BRCA1
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 6
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 6
rs80187739
BRCA1
0.851 0.200 17 43067608 missense variant C/A;G;T snv 1.2E-05 4
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 9
rs80356913
BRCA1
0.851 0.200 17 43106456 missense variant C/A;G;T snv 4
rs80356945
BRCA1
0.882 0.200 17 43093193 stop gained G/A;C;T snv 4.0E-06 4
rs80356962
BRCA1
0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06 8
rs80356989
BRCA1
0.882 0.200 17 43082539 stop gained G/A snv 4.0E-06 7.0E-06 4
rs80357068
BRCA1
0.925 0.120 17 43094338 stop gained G/A;C;T snv 4.0E-06 3
rs80357234
BRCA1
0.882 0.200 17 43104949 stop gained G/A;T snv 4
rs80357433
BRCA1
0.851 0.200 17 43071225 stop gained G/A;C snv 4.0E-06 1.4E-05 5
rs80357468
BRCA1
0.882 0.200 17 43094415 stop gained C/T snv 4
rs80357481
BRCA1
0.882 0.200 17 43094317 stop gained G/C;T snv 5
rs80357516
BRCA1
0.882 0.200 17 43093653 frameshift variant -/ACTA delins 4
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs80357526
BRCA1
0.882 0.200 17 43093575 frameshift variant CTTT/- delins 7.0E-06 4
rs80357569
BRCA1
0.882 0.200 17 43094515 frameshift variant T/-;TT delins 4
rs80357579
BRCA1
0.882 0.200 17 43091760 frameshift variant CT/- delins 1.4E-05 4
rs80357607
BRCA1
0.882 0.200 17 43093016 frameshift variant G/- delins 4