Source: ALL

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: rs10052657
rs10052657
PDE4D
0.807 0.120 5 59111944 intron variant C/A snv 0.17
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.700 1.000 1 2014 2014
dbSNP: rs10061133
rs10061133
CDC20B ; MIR449A ; MIR449B
0.851 0.160 5 55170716 mature miRNA variant A/G snv 0.11 8.6E-02
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2015 2015
dbSNP: rs1009316
rs1009316
BAX
1.000 0.080 19 48955313 non coding transcript exon variant T/C;G snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs10138277
rs10138277
HEATR5A
1.000 0.080 14 31393927 intron variant T/A;C snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2016 2016
dbSNP: rs10204525
rs10204525
PDCD1
0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 1.000 2 2014 2016
dbSNP: rs1029342144
rs1029342144
PTEN ; KLLN
0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2012 2012
dbSNP: rs1033667
rs1033667
CHEK2
1.000 0.080 22 28734312 intron variant C/T snv 0.30
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2019 2019
dbSNP: rs1035142
rs1035142
FLACC1
0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs1042026
rs1042026
ADH1B
1.000 0.080 4 99307309 3 prime UTR variant T/C snv 0.24
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.070 1.000 7 2003 2017
dbSNP: rs10484761
rs10484761 		0.807 0.080 6 40834522 intergenic variant T/C snv 0.31
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2015 2015
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2019 2019
dbSNP: rs1050631
rs1050631
SLC39A6
0.882 0.080 18 36114157 synonymous variant G/A snv 0.33 0.30
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 1.000 2 2013 2019
dbSNP: rs10511729
rs10511729
LOC101929563
0.742 0.240 9 23557229 intron variant T/G snv 0.35
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs1051740
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.030 0.667 3 2003 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 1.000 2 2001 2013
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2018 2018
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs107822
rs107822
RING1 ; MIR219A1
0.827 0.120 6 33207798 upstream gene variant C/T snv 0.27 0.28
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2015 2015
dbSNP: rs10811474
rs10811474 		0.742 0.240 9 21114238 intergenic variant A/G snv 0.44
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs10811661
rs10811661 		0.724 0.400 9 22134095 intergenic variant T/C snv 0.14
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2019 2019
dbSNP: rs10882379
rs10882379
LOC105378438
1.000 0.080 10 93991742 intergenic variant G/A;C snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2017 2017
dbSNP: rs10889677
rs10889677
IL23R
0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs11066280
rs11066280
HECTD4
0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2015 2015