Disease: Squamous cell carcinoma
Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
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 213
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 187
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
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 0.30 103
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 73
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 47
rs1057520001
TP53
0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 23
rs1799930
NAT2
0.716 0.400 8 18400593 missense variant G/A snv 0.27 0.27 17