DisGeNET - a database of gene-disease associations

List of shared variants

Carcinoma of lung, C0684249

Disease: Non-Small Cell Lung Carcinoma

Source: BEFREE ×

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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	Num. diseases
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67	242
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50	214
rs1046175	PAOX	0.851	0.080	10	133391446	stop gained	C/A;G;T	snv	1.2E-05; 0.88	4
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv		42
rs1057519729	MAP2K1	0.827	0.080	15	66435113	missense variant	A/C	snv		5
rs1057519784	ALK	0.827	0.080	2	29220765	missense variant	G/T	snv		6
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv		72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv		72
rs1057519861	EGFR ; EGFR-AS1	0.776	0.080	7	55181398	missense variant	T/A	snv		15
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv		21
rs10680577	RAB4B-EGLN2 ; EGLN2	0.776	0.160	19	40798690	intron variant	-/TACT	delins		10
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42	72
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		213
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06	484
rs11540478	IDH2	0.851	0.080	15	90085305	synonymous variant	G/A;C	snv	3.5E-02; 6.4E-06	4
rs1171287261	EGFR	0.851	0.080	7	55191839	missense variant	G/A	snv		4
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv		73
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06	54
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs121913465	EGFR ; EGFR-AS1	0.763	0.160	7	55181312	missense variant	G/T	snv		9
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06	135
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv		55
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06	19
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32	134
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06	79