Disease: Squamous cell carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs751402
ERCC5 ; BIVM-ERCC5
0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 15
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
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
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2031920
LOC107984284 ; CYP2E1
0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 20
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
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