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: rs1926447
rs1926447
CPB2 ; CPB2-AS1
0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2007 2007
dbSNP: rs1805377
rs1805377
XRCC4
0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.020 1.000 2 2008 2008
dbSNP: rs28360317
rs28360317
XRCC4
0.716 0.280 5 83323739 intron variant -/CCT delins 0.24
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.020 1.000 2 2008 2008
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.020 1.000 2 2008 2008
dbSNP: rs132770
rs132770
XRCC6 ; DESI1
0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2008 2008
dbSNP: rs132774
rs132774
XRCC6
0.776 0.280 22 41635949 intron variant C/G snv 0.69
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2008 2008
dbSNP: rs1800870
rs1800870
ALDH3A2
0.851 0.200 17 19649164 intron variant C/T snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2008 2008
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
0.724 0.320 5 83076846 intron variant G/A;T snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2008 2008
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
0.724 0.320 22 41620695 intron variant C/A;G snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2008 2008
dbSNP: rs28360071
rs28360071
XRCC4
0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2008 2008
dbSNP: rs3734091
rs3734091
XRCC4
0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2008 2008
dbSNP: rs5751129
rs5751129
XRCC6 ; DESI1
0.752 0.320 22 41619761 intron variant C/T snv 0.69
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2008 2008
dbSNP: rs1047840
rs1047840
EXO1
0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2009 2009
dbSNP: rs11685387
rs11685387
XRCC5
0.776 0.240 2 216109091 splice region variant C/T snv 0.30
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2009 2009
dbSNP: rs1635498
rs1635498
EXO1
0.807 0.160 1 241881973 missense variant C/A;G;T snv 0.96
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2009 2009
dbSNP: rs1776148
rs1776148
EXO1
0.807 0.160 1 241879243 missense variant A/G snv 0.66 0.66
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2009 2009
dbSNP: rs3754093
rs3754093
EXO1
0.776 0.240 1 241846814 upstream gene variant A/G snv 0.23
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2009 2009
dbSNP: rs751763046
rs751763046
EXO1
0.790 0.200 1 241885375 missense variant T/C snv 4.0E-06
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2009 2009
dbSNP: rs828907
rs828907
XRCC5
0.827 0.160 2 216108009 intron variant G/T snv 0.37
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2009 2009
dbSNP: rs851797
rs851797
EXO1
0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2009 2009
dbSNP: rs9288518
rs9288518
XRCC5
0.776 0.240 2 216196997 intron variant A/G snv 0.35
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2009 2009
dbSNP: rs9350
rs9350
EXO1
0.742 0.240 1 241885372 missense variant C/T snv 0.21 0.19
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2009 2009
dbSNP: rs1271546630
rs1271546630
MPO
1.000 0.120 17 58277848 missense variant G/A;C snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2010 2010
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: 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