Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.900 0.938 13 2010 2019
dbSNP: rs671
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.880 1.000 8 2001 2019
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.840 1.000 4 2009 2016
dbSNP: rs3765524
rs3765524
PLCE1
0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.820 1.000 2 2010 2019
dbSNP: rs738722
rs738722
CHEK2
0.882 0.120 22 28734024 intron variant T/C snv 0.67
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.810 1.000 1 2010 2012
dbSNP: rs13042395
rs13042395
SLC52A3
0.752 0.160 20 773867 intron variant C/T snv 5.9E-02
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.730 0.750 3 2010 2016
dbSNP: rs10931936
rs10931936
CASP8
0.827 0.120 2 201279205 intron variant T/C snv 0.72
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.710 1.000 1 2012 2017
dbSNP: rs13016963
rs13016963
FLACC1
0.851 0.080 2 201298088 intron variant A/G snv 0.59
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.710 1.000 1 2012 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.100 1.000 11 2005 2014
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.080 0.875 8 2009 2015
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.070 0.857 7 2009 2015
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.070 0.857 7 2009 2015
dbSNP: rs2234922
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.060 0.500 6 2010 2015
dbSNP: rs1051740
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.050 0.600 5 2013 2015
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.040 0.750 4 2004 2013
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.030 0.667 3 2001 2019
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.030 1.000 3 2009 2013
dbSNP: rs1800566
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.030 1.000 3 2014 2019
dbSNP: rs1800872
rs1800872
IL10 ; IL19
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.030 0.667 3 2013 2016
dbSNP: rs2273535
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.030 1.000 3 2004 2013
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.030 1.000 3 2013 2019
dbSNP: rs758272654
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.030 1.000 3 2009 2014
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.020 1.000 2 2013 2014
dbSNP: rs11615
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.020 1.000 2 2012 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.020 0.500 2 2008 2014