Disease: Esophageal 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
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
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
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs4646903
CYP1A1
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 36
rs3802842
COLCA2 ; COLCA1
0.695 0.280 11 111300984 intron variant C/A snv 0.71 25
rs1321311 0.742 0.160 6 36655123 regulatory region variant C/A snv 0.28 15
rs989902
PTPN13
0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 12
rs10088262
LOC105375739
0.925 0.160 8 123753462 intergenic variant A/G snv 0.56 2