Disease: Squamous cell carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1047840
EXO1
0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 19
rs1048638
CA9
0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 10
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs11134527
MIR218-2 ; SLIT3
0.677 0.400 5 168768351 intron variant G/A snv 0.25 24
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs11549467
HIF1A ; HIF1A-AS3
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs1801270
CDKN1A
0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 22
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1899663
HOTAIR
0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
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
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
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