Disease: Squamous cell carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1800625
AGER ; PBX2
0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 39
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs751402
ERCC5 ; BIVM-ERCC5
0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 15
rs937283
MDM2
0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 19
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
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
rs12108497
PRIMPOL ; CASP3
0.851 0.080 4 184650403 intron variant C/G;T snv 6
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs2031920
LOC107984284 ; CYP2E1
0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 20
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1047840
EXO1
0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs11134527
MIR218-2 ; SLIT3
0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1799930
NAT2
0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27 17