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
rs4919510
SEMA4G ; MIR608 ; MRPL43
0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32
rs873601
BIVM-ERCC5 ; ERCC5
0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 25
rs664677
ATM
0.807 0.160 11 108272455 intron variant C/A;T snv 0.65 8
rs3787016
POLR2E
0.677 0.280 19 1090804 intron variant A/G snv 0.78 24
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
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
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs9651118
MTHFR
0.683 0.480 1 11802157 intron variant T/C snv 0.18 20
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs140693
MBD4
0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 10
rs2736108 0.807 0.160 5 1297373 upstream gene variant C/T snv 0.24 6
rs451360
CLPTM1L
0.827 0.200 5 1319565 intron variant C/A;T snv 5
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs3813867
LOC107984284 ; CYP2E1
0.732 0.240 10 133526101 intron variant G/A;C snv 13
rs2031920
LOC107984284 ; CYP2E1
0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 20
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1799971
OPRM1
0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 95
rs4072037
MUC1
0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 22
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71