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
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			36
rs1057519698	ALK	0.827	0.120	2	29222347	missense variant	A/G;T	snv			1
rs1057519729	MAP2K1	0.827	0.080	15	66435113	missense variant	A/C	snv			2
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
rs1057519788	ROS1	0.925	0.080	6	117317184	missense variant	C/T	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
rs1057519858	STK11	1.000	0.080	19	1220495	missense variant	G/T	snv			1
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			13
rs1057523347	TP53	0.925	0.160	17	7673789	stop gained	A/G;T	snv			1
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			8
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs113994088	ALK	0.925	0.080	2	29222584	missense variant	C/G	snv			3
rs113994091	ALK	0.882	0.160	2	29222407	missense variant	G/A;C	snv	3.2E-05		2
rs1143627	IL1B	0.605	0.760	2	112836810	5 prime UTR variant	G/A	snv		0.56	1
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			25
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			1
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			24
rs121912470	IRF1	0.925	0.120	5	132489448	missense variant	A/G	snv			1
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			1
rs121913229	EGFR	0.925	0.080	7	55174785	missense variant	G/C	snv	4.0E-06		2