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: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.020 1.000 2 2006 2012
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 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: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2010 2010
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2006 2006
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.030 1.000 3 2007 2013
dbSNP: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.030 1.000 3 2007 2013
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.030 1.000 3 2007 2013
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2005 2005
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.100 1.000 15 2013 2019
dbSNP: rs11540652
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.710 1.000 2 1991 2016
dbSNP: rs121913273
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs121913682
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 < 0.001 1 2005 2005
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.710 1.000 2 2017 2018
dbSNP: rs1138272
rs1138272
GSTP1
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2012 2012
dbSNP: rs121913343
rs121913343
TP53
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs121913507
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 < 0.001 1 2005 2005
dbSNP: rs1333049
rs1333049
CDKN2B-AS1
0.614 0.520 9 22125504 intron variant G/C snv 0.41
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2016 2016
dbSNP: rs401681
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.020 0.500 2 2013 2014
dbSNP: rs121909224
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs886039484
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs121912666
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016