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: rs1051740
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.030 1.000 3 2003 2015
dbSNP: rs2234922
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.020 1.000 2 2003 2015
dbSNP: rs1057519991
rs1057519991
TP53
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs764146326
rs764146326
TP53
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs876659477
rs876659477
TP53
0.882 0.040 17 7673730 missense variant T/C snv
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.070 0.571 7 2005 2014
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.040 1.000 4 2005 2014
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.020 1.000 2 2005 2018
dbSNP: rs759412116
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.020 1.000 2 2005 2014
dbSNP: rs2308321
rs2308321
MGMT
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs2240308
rs2240308
AXIN2
0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.050 0.400 5 2007 2015
dbSNP: rs747126003
rs747126003
IL6 ; IL6-AS1
0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.040 0.500 4 2008 2019
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.020 < 0.001 2 2008 2013
dbSNP: rs758272654
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs770460061
rs770460061
GSTP1
0.742 0.240 11 67585239 missense variant T/C;G snv 4.0E-06; 1.2E-05
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.040 0.500 4 2009 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.030 0.667 3 2009 2012
dbSNP: rs1229984
rs1229984
ADH1B
0.570 0.560 4 99318162 missense variant T/C;G snv 0.90
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.040 1.000 4 2010 2015
dbSNP: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.030 0.667 3 2010 2015
dbSNP: rs1045485
rs1045485
CASP8
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 < 0.001 1 2010 2010
dbSNP: rs11540483
rs11540483
TAX1BP1
0.925 0.040 7 27787484 missense variant T/A snv 8.2E-02 7.7E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs35385902
rs35385902
ADH1B ; ADH1C
0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2010 2010