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: rs678815
rs678815
MMP3
0.851 0.080 11 102843046 intron variant G/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs3025058
rs3025058
MMP3
0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2006 2014
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs652438
rs652438
MMP12
0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2006 2006
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.070 0.857 7 2003 2019
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs3740393
rs3740393
AS3MT ; BORCS7-ASMT
0.776 0.280 10 102876898 intron variant G/C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs1192694481
rs1192694481
MMP13
0.882 0.080 11 102955629 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2013 2013
dbSNP: rs2252070
rs2252070
MMP13
0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2013 2013
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.100 0.636 22 2004 2019
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2013 2013
dbSNP: rs141752671
rs141752671 		0.708 0.280 11 103745837 intron variant A/G snv 5.4E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs148883465
rs148883465 		0.708 0.280 11 103813371 intron variant A/G snv 7.2E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs9295535
rs9295535
MIR5689 ; MIR5689HG
0.851 0.160 6 10439735 mature miRNA variant T/C snv 0.30 0.20
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2015 2015
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2008 2008
dbSNP: rs507879
rs507879
CASP5
0.882 0.080 11 105007200 missense variant T/A;C;G snv 0.43 0.49
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2013 2013
dbSNP: rs35440884
rs35440884 		1.000 0.080 9 105051392 intron variant G/A snv 0.11
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2017 2017
dbSNP: rs7679673
rs7679673 		0.677 0.440 4 105140377 intron variant C/A snv 0.50
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1467453450
rs1467453450
FSD1L
0.882 0.080 9 105506513 missense variant A/G snv 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2013 2013
dbSNP: rs1273593548
rs1273593548
PIK3CG
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2016 2016
dbSNP: rs419558
rs419558
DKK2
0.882 0.080 4 106922935 3 prime UTR variant C/T snv 0.29
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs17037102
rs17037102
DKK2
0.807 0.240 4 106924637 missense variant C/A;T snv 0.15
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs17723637
rs17723637
ZNF462
0.882 0.080 9 106925122 missense variant A/G snv 0.14 0.13
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2018 2018