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: rs1258159645
rs1258159645
NQO1
0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 < 0.001 1 2006 2006
dbSNP: rs1800566
rs1800566
NQO1
0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 < 0.001 1 2006 2006
dbSNP: rs7297245
rs7297245
HAL
0.882 0.040 12 95980836 missense variant C/T snv 0.85 0.86
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 < 0.001 1 2008 2008
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 0.667 3 2011 2016
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.080 0.875 8 1999 2014
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.080 0.875 8 1999 2014
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.090 0.889 9 1999 2018
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.050 1.000 5 2012 2017
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.040 1.000 4 2013 2016
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.040 1.000 4 2013 2016
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.040 1.000 4 2013 2016
dbSNP: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 1.000 3 2002 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 1.000 3 2007 2018
dbSNP: rs401681
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 1.000 3 2011 2014
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2011 2017
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.720 1.000 2 2014 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2007 2016
dbSNP: rs121913483
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2001 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2005 2009
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2009 2009
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2012 2016
dbSNP: rs2274223
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2012 2013
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2013 2014
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2009 2010
dbSNP: rs351855
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2010 2017