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: rs1048638
rs1048638
CA9
0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2012 2012
dbSNP: rs10972727
rs10972727
RECK
0.882 0.200 9 36110066 synonymous variant T/A snv 0.32 0.28
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2011 2011
dbSNP: rs1137100
rs1137100
LEPR
0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2019 2019
dbSNP: rs11788747
rs11788747
RECK
0.851 0.240 9 36105267 synonymous variant A/C;G snv 4.0E-06; 0.34
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2011 2011
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2010 2010
dbSNP: rs16932912
rs16932912
RECK
0.882 0.120 9 36087879 missense variant G/A snv 9.2E-02 8.5E-02
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2011 2011
dbSNP: rs16969968
rs16969968
CHRNA5
0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2014 2014
dbSNP: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2013 2013
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2015 2015
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2014 2014
dbSNP: rs34009635
rs34009635
MMP8
0.716 0.360 11 102713445 missense variant A/G snv 2.5E-03 6.2E-04
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2018 2018
dbSNP: rs3829078
rs3829078
CA9
0.851 0.160 9 35679254 missense variant A/G;T snv 8.2E-02
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2012 2012
dbSNP: rs4646903
rs4646903
CYP1A1
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2015 2015
dbSNP: rs5275
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2015 2015
dbSNP: rs578776
rs578776
CHRNA3
0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2014 2014
dbSNP: rs689466
rs689466
PTGS2 ; PACERR
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2015 2015
dbSNP: rs748500299
rs748500299
PTGS2
0.790 0.200 1 186675960 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2015 2015
dbSNP: rs7799039
rs7799039
LOC105375494
0.649 0.560 7 128238730 upstream gene variant G/A;C snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 < 0.001 1 2019 2019
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.030 0.333 3 2012 2015
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.030 0.333 3 2007 2013
dbSNP: rs1137101
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.020 0.500 2 2009 2019
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.080 0.750 8 2008 2015
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.040 0.750 4 2013 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.080 0.875 8 2002 2017
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.050 1.000 5 2003 2015