Disease: Esophageal Neoplasms
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1039808
FAT4
0.925 0.080 4 125318831 missense variant C/G;T snv 4.0E-06; 0.41 3
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1131691021
TP53
0.716 0.120 17 7675097 missense variant A/C;G snv 21
rs11473
BSG
0.882 0.080 19 582982 3 prime UTR variant C/A;T snv 4
rs121912654
TP53
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 21
rs121912657
TP53
0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 24
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs12508222
FAT4
0.925 0.080 4 125449492 missense variant G/A;T snv 4.3E-02; 2.0E-05 3
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
rs1364898025
ATM
0.925 0.080 11 108227656 missense variant G/A snv 3
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs16845990
ERBB4
0.882 0.080 2 211378286 3 prime UTR variant T/A;C snv 4
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs1800372
TP53
0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 15
rs1800925
IL13 ; TH2LCRR
0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 37
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs2228612
DNMT1
0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 12
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs2244438
TRAK2
0.882 0.080 2 201387816 missense variant G/A;T snv 0.29; 4.0E-06 4