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: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.040 1.000 4 2005 2019
dbSNP: rs125555
rs125555
MBD1
0.882 0.080 18 50273809 missense variant G/A;C snv 3.6E-05; 0.19
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2005 2008
dbSNP: rs1805087
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2005 2011
dbSNP: rs746702110
rs746702110
OGG1
0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2005 2007
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2005 2005
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2005 2005
dbSNP: rs2071203
rs2071203
SEMA3B
0.827 0.120 3 50274469 missense variant C/T snv 0.12 9.9E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2005 2005
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2005 2005
dbSNP: rs375573770
rs375573770
TP53
0.882 0.080 17 7670682 missense variant C/G snv 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2005 2005
dbSNP: rs587781525
rs587781525
TP53
0.689 0.480 17 7673778 missense variant T/A;C;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2005 2005
dbSNP: rs758760017
rs758760017
PAQR7
0.882 0.080 1 25863774 synonymous variant C/T snv 1.6E-05 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2005 2005
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.968 31 2006 2019
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.968 31 2006 2019
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.968 31 2006 2019
dbSNP: rs1051740
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.080 1.000 8 2006 2015
dbSNP: rs2240308
rs2240308
AXIN2
0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.060 1.000 6 2006 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.050 1.000 5 2006 2018
dbSNP: rs2234922
rs2234922
EPHX1
0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.050 1.000 5 2006 2015
dbSNP: rs397517132
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.050 1.000 5 2006 2018
dbSNP: rs140693
rs140693
MBD4
0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2006 2012
dbSNP: rs372043866
rs372043866
ERBB2
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2006 2016
dbSNP: rs1800470
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2006 2014
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2006 2019
dbSNP: rs2073498
rs2073498
RASSF1
0.763 0.280 3 50332115 missense variant C/A snv 9.6E-02 8.0E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2006 2014
dbSNP: rs2279744
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2006 2008