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
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv 18
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv 62
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 97
rs213210
MIR219A1 ; RING1
0.742 0.240 6 33208047 upstream gene variant A/C;G snv 11
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs2250889
SLC12A5-AS1 ; MMP9
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 24
rs2267437
DESI1 ; XRCC6
0.724 0.320 22 41620695 intron variant C/A;G snv 19
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs238415
ERCC2
0.851 0.120 19 45353977 intron variant C/A;G;T snv 4
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 78
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs3813867
LOC107984284 ; CYP2E1
0.732 0.240 10 133526101 intron variant G/A;C snv 13
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs4072037
MUC1
0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 22
rs451360
CLPTM1L
0.827 0.200 5 1319565 intron variant C/A;T snv 5
rs6505162
NSRP1 ; MIR3184 ; MIR423
0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 25
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36