Disease: Squamous cell carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs751402
ERCC5 ; BIVM-ERCC5
0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 15
rs7853346
PTENP1-AS ; PTENP1
0.851 0.200 9 33676096 non coding transcript exon variant C/G snv 0.28; 1.2E-05 0.32 6
rs804270
NEIL2
0.882 0.080 8 11770112 5 prime UTR variant G/C;T snv 3
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs937283
MDM2
0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 19
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
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214