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: 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: rs12188136
rs12188136
LINC01411
1.000 0.080 5 174407635 intron variant A/G snv 0.30
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2019 2019
dbSNP: rs1233960622
rs1233960622
PIK3CB
1.000 0.080 3 138699044 missense variant C/T snv 1.4E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2015 2015
dbSNP: rs12953717
rs12953717
SMAD7
0.724 0.240 18 48927559 intron variant C/T snv 0.36
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2017 2017
dbSNP: rs1800629
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2016 2016
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2017 2017
dbSNP: rs1805377
rs1805377
XRCC4
0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2016 2016
dbSNP: rs2005618
rs2005618
MBD4
0.925 0.200 3 129432824 intron variant A/G snv 0.23
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2015 2015
dbSNP: rs2070999
rs2070999
NQO2 ; NQO2-AS1
1.000 0.080 6 2999495 non coding transcript exon variant A/G snv 0.70
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2014 2014
dbSNP: rs2151280
rs2151280
CDKN2B-AS1
0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2015 2015
dbSNP: rs2297441
rs2297441
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
0.807 0.160 20 63696229 3 prime UTR variant G/A;C snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2014 2014
dbSNP: rs3138373
rs3138373
EFCAB12
1.000 0.080 3 129430178 upstream gene variant T/C snv 0.13
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2015 2015
dbSNP: rs3219218
rs3219218
UNG
0.851 0.120 12 109100430 intron variant A/G snv 1.9E-02
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2014 2014
dbSNP: rs3753584
rs3753584
CLCN6 ; MTHFR
0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2014 2014
dbSNP: rs4359426
rs4359426
CCL22
0.925 0.120 16 57358821 missense variant A/C;T snv 0.92 0.94
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2017 2017
dbSNP: rs6854472
rs6854472 		1.000 0.080 4 89513521 intron variant G/T snv 0.30
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2019 2019
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2015 2015
dbSNP: rs759412116
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2002 2002
dbSNP: rs759640288
rs759640288
PIK3CD
1.000 0.080 1 9720853 missense variant G/A snv 8.3E-06
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2015 2015
dbSNP: rs759704231
rs759704231
TBCD ; ZNF750
1.000 0.080 17 82830681 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2015 2015
dbSNP: rs762551
rs762551
CYP1A2
0.701 0.400 15 74749576 intron variant C/A snv 0.67
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2018 2018
dbSNP: rs7922612
rs7922612
PLCE1
0.752 0.080 10 94051682 intron variant C/T snv 0.39
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2014 2014
dbSNP: rs875339
rs875339
RORA
1.000 0.080 15 60803856 intron variant C/A;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2019 2019
dbSNP: rs9651118
rs9651118
MTHFR
0.683 0.480 1 11802157 intron variant T/C snv 0.18
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2014 2014
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.030 0.333 3 2007 2013