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: 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: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.060 1.000 6 2002 2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.040 1.000 4 2002 2012
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.030 1.000 3 2002 2009
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.030 0.333 3 2002 2009
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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.100 1.000 13 2003 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: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.070 1.000 7 2003 2017
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.070 1.000 7 2003 2017
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: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 1.000 2 2003 2011
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2003 2003
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2003 2003
dbSNP: rs587782447
rs587782447
TP53
1.000 0.080 17 7676049 missense variant T/C;G snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2003 2003
dbSNP: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2004 2004
dbSNP: rs1200055659
rs1200055659
S100A14 ; S100A16
0.851 0.080 1 153614902 missense variant G/A snv 7.0E-06
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2004 2004
dbSNP: rs140693
rs140693
MBD4
0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2004 2004
dbSNP: rs2273535
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2004 2004
dbSNP: rs353163
rs353163
TMPRSS11A ; UBA6-AS1
0.882 0.080 4 67919056 missense variant T/A;C;G snv 0.67
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.040 1.000 4 2006 2013
dbSNP: rs2234922
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.030 1.000 3 2006 2019
dbSNP: rs1805087
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 1.000 2 2006 2008
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2006 2006
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
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 1.000 2 2007 2008