Disease: Triple Negative Breast Neoplasms
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800067
ERCC4
0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 17
rs1042821
MSH6
0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 16
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 16
rs16999593
DNMT1
0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 14
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 14
rs8170
BABAM1 ; USHBP1
0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 13
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 11
rs4987188
MSH2
0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 11
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 11
rs17217772
MSH2
0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 10
rs144567652
FANCM
0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03 8
rs2363956
ANKLE1
0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 8
rs3865014
GLCE
0.851 0.080 15 69269179 missense variant G/A snv 0.75 0.69 8
rs4784227
CASC16
0.807 0.160 16 52565276 intron variant C/T snv 0.20 8
rs999737
RAD51B
0.776 0.200 14 68567965 intron variant C/T snv 0.16 8
rs4849887 0.807 0.080 2 120487546 intergenic variant T/A;C snv 7
rs397507758
BRCA2
0.807 0.200 13 32339456 stop gained C/T snv 6
rs4415084 0.827 0.080 5 44662413 upstream gene variant C/T snv 0.49 6
rs587780021
BARD1
0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 6
rs8176318
BRCA1
0.807 0.120 17 43045257 3 prime UTR variant C/A snv 0.34 0.29 6
rs9485372
TAB2
0.807 0.120 6 149287738 intron variant G/A snv 0.20 6
rs10771399 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 5
rs587779287
FBXO11 ; MSH6
0.827 0.200 2 47806280 frameshift variant GTACATTATTTTC/- delins 5
rs750040814
XPC
0.827 0.160 3 14158639 missense variant C/T snv 1.6E-05 5.6E-05 5
rs8100241
USHBP1 ; ANKLE1
0.827 0.120 19 17282085 missense variant G/A snv 0.47 0.47 5