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
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs10511729
LOC101929563
0.742 0.240 9 23557229 intron variant T/G snv 0.35 11
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs107822
MIR219A1 ; RING1
0.827 0.120 6 33207798 upstream gene variant C/T snv 0.27 0.28 5
rs10811474 0.742 0.240 9 21114238 intergenic variant A/G snv 0.44 11
rs10889677
IL23R
0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 40
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs1138272
GSTP1
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs11568820
VDR
0.672 0.480 12 47908762 intron variant C/T snv 0.38 27
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
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
rs12683422
LINGO2
0.742 0.240 9 27969442 intron variant C/T snv 5.7E-02 11
rs12976445
SPACA6 ; SPACA6P-AS ; MIRLET7E ; MIR125A
0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 20
rs13042395
SLC52A3
0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 13
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