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: rs470558
rs470558
MMP1 ; WTAPP1
1.000 0.040 11 102795585 synonymous variant T/C snv 0.92 0.95
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2019 2019
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: rs471692
rs471692
TOP2A
0.925 0.080 17 40400518 intron variant T/A;C snv 0.79
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs26279
rs26279
MSH3
0.790 0.160 5 80873118 missense variant G/A snv 0.73 0.70
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs8305
rs8305
POLI
0.882 0.120 18 54294435 missense variant G/A snv 0.72 0.78
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2005 2008
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: rs1340420
rs1340420
TNKS2
0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2015 2015
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: 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: rs16891982
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.710 1.000 1 2009 2016
dbSNP: rs1800975
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs3087386
rs3087386
REV1
0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs7208422
rs7208422
TMC8
0.807 0.120 17 78134494 missense variant A/C;T snv 4.0E-06; 0.51
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2008 2015
dbSNP: rs1137101
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs4680
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1130409
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs602662
rs602662
FUT2 ; LOC105447645
0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs17568
rs17568
TNFRSF4
0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1047840
rs1047840
EXO1
0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs3732183
rs3732183
MSH2
1.000 0.040 2 47466820 intron variant G/A;T snv 0.34; 4.0E-06 0.40
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2019 2019
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
dbSNP: rs402710
rs402710
CLPTM1L
0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2010 2010
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