Disease: Squamous cell carcinoma of esophagus
Source: ALL
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
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
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs4938723
MIR34C ; BTG4 ; MIR34B ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs1800682
ACTA2 ; FAS
0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 32
rs4919510
SEMA4G ; MIR608 ; MRPL43
0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32
rs3787016
POLR2E
0.677 0.280 19 1090804 intron variant A/G snv 0.78 24
rs712
KRAS
0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 24
rs619586
MALAT1
0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02 15
rs2296241
CYP24A1
0.763 0.200 20 54169680 synonymous variant G/A snv 0.49 0.51 12
rs16941
BRCA1
0.827 0.240 17 43092418 missense variant T/C;G snv 0.35 7