Disease: Malignant neoplasm of breast
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs80356923
BRCA1
0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 5
rs80357888
BRCA1
0.882 0.200 17 43094023 frameshift variant ATTTA/- delins 5
rs864622401
BRCA2
0.882 0.200 13 32339092 frameshift variant -/TG delins 4
rs876659036
PALB2
1.000 0.080 16 23622997 stop gained C/A;G snv 8.0E-06; 8.0E-06 3
rs1555460315
PALB2
1.000 0.080 16 23629673 frameshift variant GT/- delins 2