Disease: Malignant neoplasm of breast
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv 13
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv 12
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv 12
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs80359596
BRCA2
0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 6
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins 5
rs540635787
CHEK2
0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05 4