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: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.100 0.980 406 2005 2020
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 0.983 176 2004 2020
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 0.983 176 2004 2020
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 0.983 176 2004 2020
dbSNP: rs1057519861
rs1057519861
EGFR ; EGFR-AS1
0.776 0.080 7 55181398 missense variant T/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.100 0.938 16 2015 2020
dbSNP: rs121913444
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 1.000 11 2004 2020
dbSNP: rs772092699
rs772092699
EPHB2
0.925 0.080 1 22912497 missense variant C/A;G;T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.070 1.000 7 2012 2020
dbSNP: rs11071938
rs11071938
SMAD3
1.000 0.080 15 67127649 intron variant C/T snv 0.27
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs11632964
rs11632964
SMAD3
1.000 0.080 15 67071235 intron variant C/G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs13213007
rs13213007
HDAC2
1.000 0.080 6 113961317 intron variant G/A snv 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs2067051
rs2067051
MRPL23 ; H19 ; MIR675
0.882 0.120 11 1996938 non coding transcript exon variant C/A;T snv 7.0E-06; 0.41
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs217727
rs217727
MRPL23 ; H19 ; HOTS
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 < 0.001 1 2020 2020
dbSNP: rs4929984
rs4929984
MRPL23 ; H19
0.925 0.160 11 2003453 upstream gene variant C/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 < 0.001 1 2020 2020
dbSNP: rs60571065
rs60571065
PPARGC1A
1.000 0.080 4 23875164 intron variant T/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 1.000 30 2002 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.100 1.000 29 2011 2019
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.790 1.000 26 2002 2019
dbSNP: rs121913428
rs121913428
EGFR
0.827 0.120 7 55174015 missense variant G/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.740 1.000 21 1990 2019
dbSNP: rs28929495
rs28929495
EGFR
0.807 0.120 7 55174014 missense variant G/A;C;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.750 1.000 21 2004 2019
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.800 1.000 19 2002 2019
dbSNP: rs397517132
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.100 1.000 13 2011 2019
dbSNP: rs11615
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.090 0.889 9 2011 2019
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.060 1.000 6 2012 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.050 1.000 5 2006 2019