Disease: Malignant neoplasm of breast
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs80358981
BRCA2
0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 7
rs886039920
BRCA1
0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 7
rs1046428
GSTZ1
0.776 0.200 14 77327940 missense variant T/A;C snv 4.0E-06; 0.81 8
rs11655505
NBR2 ; BRCA1
0.776 0.160 17 43126360 intron variant G/A snv 0.31 8
rs2180314
GSTA2
0.776 0.200 6 52752933 missense variant C/G snv 0.60 0.52 8
rs2304277
OGG1 ; CAMK1
0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26 8
rs2363956
ANKLE1
0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 8
rs2665390
LOC107986148 ; TIPARP
0.776 0.160 3 156679960 intron variant C/T snv 0.92 8
rs56307747
ELN ; ELN-AS1
0.776 0.160 7 74059952 missense variant G/A;C snv 4.0E-06 8
rs587782818
RAD51C
0.790 0.160 17 58703325 stop gained C/G snv 6.4E-05; 4.0E-06 1.4E-05 8
rs80357750
BRCA1
0.790 0.200 17 43115759 frameshift variant G/- delins 8
rs80356952
BRCA1
0.790 0.200 17 43093901 stop gained G/A snv 9
rs80357138
BRCA1
0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 9
rs55770810
BRCA1
0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 10
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 10
rs118203998
PALB2
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 11
rs200389141
BLM
0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 11
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 11
rs2297235
GSTO2
0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22 11
rs2699887
PIK3CA ; LOC101928739
0.763 0.280 3 179148620 intron variant C/T snv 0.18 11
rs28897696
BRCA1
0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 11
rs28997576
BARD1
0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 11
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 11
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 11
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 11