Disease: Breast Carcinoma
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
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
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05 8
rs587780174
CHEK2
0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 7
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins 6
rs80357678
BRCA1
0.851 0.200 17 43091614 frameshift variant AA/- del 5
rs80359770
BRCA2
0.851 0.200 13 32332429 frameshift variant A/-;AA delins 5
rs587782471
CHEK2
0.851 0.240 22 28711994 missense variant A/G;T snv 3.5E-04; 8.0E-06 4
rs80359011
BRCA2
0.882 0.200 13 32362574 stop gained G/A;C snv 4
rs80359598
BRCA2
0.882 0.200 13 32340837 frameshift variant ACAA/- delins 4
rs80357474
BRCA1
0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 3