Disease: Hereditary Breast and Ovarian Cancer Syndrome
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80358920
BRCA2
0.732 0.400 13 32346841 stop gained C/G;T snv 12
rs80359212
BRCA2
0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 11
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 10
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 10
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 9
rs80358785
BRCA2
0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 9
rs80356962
BRCA1
0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06 8
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 8
rs80359584
BRCA2
0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 8
rs80356978
BRCA1
0.827 0.200 17 43092809 stop gained C/A;T snv 7
rs80357123
BRCA1
0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05 7
rs80357382
BRCA1
0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 7
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 7
rs80358044
BRCA1
0.827 0.200 17 43074330 splice donor variant C/A;G;T snv 7
rs80358981
BRCA2
0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 7
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
rs80357783
NBR2 ; BRCA1
0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06 6
rs80359351
BRCA2
0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 6
rs1800747
BRCA1
0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv 5
rs28897696
BRCA1
0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 5
rs587776416
PALB2
0.882 0.240 16 23629986 frameshift variant AT/- del 6.4E-05 2.1E-05 5
rs80357481
BRCA1
0.882 0.200 17 43094317 stop gained G/C;T snv 5
rs80357888
BRCA1
0.882 0.200 17 43094023 frameshift variant ATTTA/- delins 5
rs397509173
BRCA1
0.925 0.200 17 43104120 splice donor variant A/C;G;T snv 4