DisGeNET - a database of gene-disease associations

List of associated variants

Lung Neoplasms, C0024121

Source: ALL

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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
rs1242640031	CRK			17	1456106	missense variant	G/C	snv			1
rs947996134	CCDC8			19	46412799	missense variant	G/C	snv	1.2E-05	2.1E-05	1
rs3743073	CHRNA3	0.807	0.120	15	78617197	intron variant	G/T	snv		0.61	11
rs1018379423	EPHB2			1	22907986	missense variant	G/T	snv	4.0E-06	2.1E-05	4
rs588765	CHRNA5	0.827	0.200	15	78573083	intron variant	T/A;C	snv			6
rs775514340	CILK1	0.882	0.080	6	53041202	missense variant	T/A;C	snv	4.0E-06		5
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs1052559	KLC3 ; ERCC2	1.000	0.040	19	45351661	stop gained	T/A;G	snv			2
rs759404153	EPHB2	1.000	0.040	1	22910452	missense variant	T/A;G	snv	2.8E-05; 4.0E-06		2
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs112295309	SCRIB ; MIR937	1.000	0.080	8	143813896	missense variant	T/C;G	snv	6.1E-04		3
rs8021944	ESR2 ; SYNE2			14	64212580	intron variant	T/G	snv		5.6E-02	1
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72