Disease: Squamous cell carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs751402
ERCC5 ; BIVM-ERCC5
0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 15
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs804270
NEIL2
0.882 0.080 8 11770112 5 prime UTR variant G/C;T snv 3
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2031920
LOC107984284 ; CYP2E1
0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 20
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs11134527
MIR218-2 ; SLIT3
0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs1799930
NAT2
0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27 17
rs12108497
PRIMPOL ; CASP3
0.851 0.080 4 184650403 intron variant C/G;T snv 6
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1047840
EXO1
0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs1800625
AGER ; PBX2
0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 39
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
rs3746444
MIR499A ; MIR499B ; MYH7B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105