Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 16
rs41293459
BRCA1
0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 12
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
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 11
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 11
rs55770810
BRCA1
0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 10
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv 9
rs80357115
BRCA1
0.790 0.200 17 43092597 stop gained A/C;T snv 8
rs80357750
BRCA1
0.790 0.200 17 43115759 frameshift variant G/- delins 8
rs80358981
BRCA2
0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 7
rs886039920
BRCA1
0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 7
rs1800709
BRCA1
0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03 6
rs80357106
BRCA1
0.827 0.200 17 43092212 stop gained C/A snv 6
rs80357268
BRCA1
0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 6
rs80357327
BRCA1
0.827 0.200 17 43115730 missense variant A/C;G;T snv 6
rs1800751
BRCA1
0.851 0.160 17 43047676 missense variant G/A;C snv 4.0E-06 5
rs587781803
BRCA2
0.851 0.200 13 32341169 frameshift variant AAGAG/- delins 5
rs80187739
BRCA1
0.851 0.200 17 43067608 missense variant C/A;G;T snv 1.2E-05 5
rs80357438
NBR2 ; BRCA1
0.851 0.200 17 43124032 stop gained A/G;T snv 5
rs80357474
BRCA1
0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 5
rs80357517
BRCA1
0.827 0.200 17 43092277 frameshift variant -/T delins 5
rs80357669
BRCA1
0.851 0.200 17 43093074 frameshift variant G/- delins 5
rs80359477
BRCA2
0.851 0.200 13 32339386 frameshift variant AA/-;A delins 5
rs80357233
BRCA1
0.882 0.200 17 43093393 stop gained G/C;T snv 4.0E-06 4