Disease: Triple Negative Breast Neoplasms
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1042821
MSH6
0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 16
rs1064793184
FBXO11 ; MSH6
0.851 0.080 2 47791055 missense variant A/G snv 4
rs1114167795
FBXO11 ; MSH6
0.851 0.080 2 47799482 missense variant C/T snv 4
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 57
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv 17
rs12662670
CCDC170
0.851 0.080 6 151597721 intron variant T/C;G snv 4
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1412125
HMGB1
0.724 0.360 13 30467458 intron variant C/G;T snv 17
rs142030651
EP300
0.851 0.080 22 41117723 missense variant G/A;C snv 6.1E-03 4
rs144567652
FANCM
0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03 8
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06 4
rs17217772
MSH2
0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 10
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 11
rs2249825
HMGB1
0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 23
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs3218536
XRCC2
0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs3761548
FOXP3
0.620 0.680 X 49261784 intron variant G/A;T snv 42
rs397507758
BRCA2
0.807 0.200 13 32339456 stop gained C/T snv 6
rs4849887 0.807 0.080 2 120487546 intergenic variant T/A;C snv 7
rs4986850
BRCA1
0.851 0.080 17 43093454 missense variant C/A;T snv 5.8E-02 4
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 11
rs587779287
FBXO11 ; MSH6
0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins 5
rs799917
BRCA1
0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 18