DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of lung, C0242379

Disease: Non-Small Cell Lung Carcinoma

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	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
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06	71
rs1057519698	ALK	0.827	0.120	2	29222347	missense variant	A/G;T	snv		8
rs1057519729	MAP2K1	0.827	0.080	15	66435113	missense variant	A/C	snv		6
rs1057519783	ALK	0.851	0.080	2	29220747	missense variant	C/T	snv		10
rs1057519784	ALK	0.827	0.080	2	29220765	missense variant	G/T	snv		7
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		34
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		214
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06	490
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
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv		24
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06	101
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv		24
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06	42
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480