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
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 14
rs80358920
BRCA2
0.732 0.400 13 32346841 stop gained C/G;T snv 12
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 11
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
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 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
rs397507419
BRCA2
0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06 7
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 7
rs80357914
BRCA1 ; NBR2
0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins 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
rs80359596
BRCA2
0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 6
rs730881939
RAD51C
0.851 0.200 17 58695008 stop gained -/A delins 5
rs80357433
BRCA1
0.851 0.200 17 43071225 stop gained G/A;C snv 4.0E-06 1.4E-05 5
rs80357481
BRCA1
0.882 0.200 17 43094317 stop gained G/C;T snv 5
rs80357609
BRCA1
0.851 0.200 17 43091827 frameshift variant TTTAC/- delins 5
rs80357868
BRCA1
0.851 0.200 17 43091772 frameshift variant GACA/- delins 1.4E-05 5
rs80358533
BRCA2
0.851 0.200 13 32337185 stop gained A/T snv 8.0E-06 7.0E-06 5
rs80359380
BRCA2
0.851 0.200 13 32337618 frameshift variant -/T;TT delins 5
rs80359405
BRCA2
0.851 0.200 13 32338201 frameshift variant GT/- delins 5
rs80359876
BRCA1
0.851 0.200 17 43070932 frameshift variant TCTTCTGGGGTCAGGCCAG/- del 5