DisGeNET - a database of gene-disease associations

List of associated variants

Non-Small Cell Lung Carcinoma, C0007131

Source: CLINVAR ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs2231137	ABCG2	0.752	0.400	4	88139962	missense variant	C/T	snv	0.11	7.4E-02	1
rs778561687	AKT2	0.851	0.080	19	40235953	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		1
rs1057519698	ALK	0.827	0.120	2	29222347	missense variant	A/G;T	snv			1
rs1057519781	ALK	0.807	0.160	2	29209816	missense variant	C/G	snv			1
rs1057519783	ALK	0.851	0.080	2	29220747	missense variant	C/T	snv			1
rs1057519784	ALK	0.827	0.080	2	29220765	missense variant	G/T	snv			1
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			1
rs397516890	BRAF	1.000	0.080	7	140781601	inframe deletion	TCC/-	del			1
rs397516897	BRAF	1.000	0.080	7	140753334	inframe deletion	TCA/-	del			1
rs267598140	DDR2	0.925	0.080	1	162778600	missense variant	T/A;G	snv			1
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			1
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			1
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			1
rs121913418	EGFR	0.882	0.160	7	55174818	missense variant	G/A;T	snv			1
rs121913420	EGFR	1.000	0.080	7	55174737	missense variant	G/A	snv			1
rs121913427	EGFR	1.000	0.080	7	55174773	missense variant	G/A;C	snv			1
rs121913464	EGFR	1.000	0.080	7	55174792	missense variant	C/A	snv			1
rs121913466	EGFR	1.000	0.080	7	55174762	missense variant	T/C	snv			1
rs121913467	EGFR	1.000	0.080	7	55174730	stop gained	G/A	snv			1
rs397517086	EGFR	1.000	0.080	7	55173986	inframe deletion	AAC/-	del			1
rs397517094	EGFR	1.000	0.080	7	55174769	protein altering variant	CAAGGAATTAAGAGAAGC/AAA	delins			1
rs397517098	EGFR	1.000	0.080	7	55174777	inframe deletion	TAAGAGAAG/-	del			1
rs397517127	EGFR	1.000	0.080	7	55191749	missense variant	G/C;T	snv			1
rs121913432	EGFR-AS1 ; EGFR	1.000	0.080	7	55181327	missense variant	A/G	snv			1
rs397517106	EGFR-AS1 ; EGFR	1.000	0.080	7	55181287	coding sequence variant	-/TCCAGGAAGCCT	delins			1