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
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs4938723
MIR34C ; BTG4 ; MIR34B ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
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
rs746702110
OGG1
0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs3803662
CASC16
0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 25
rs799917
BRCA1
0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 18
rs16999593
DNMT1
0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 14
rs40239
MET
0.851 0.120 7 116677823 intron variant G/A snv 0.87 4