DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of lung, C0242379

Disease: Tumor Cell Invasion

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	AF GENOME	Num. diseases
rs1046282	ERCC1 ; CD3EAP ; PPP1R13L	0.776	0.160	19	45407414	3 prime UTR variant	A/G	snv		0.30	10
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
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs12918952	WWOX	0.851	0.120	16	78386878	missense variant	G/A;C;T	snv			7
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins		8.8E-02	31
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv			33
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv		0.15	35
rs1982073	TGFB1	0.649	0.640	19	41353016	missense variant	G/A;C	snv			32
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv		0.31	47
rs3212948	ERCC1	0.776	0.160	19	45421104	intron variant	G/C	snv		0.53	10
rs4769793		0.807	0.120	13	29985289	intergenic variant	G/C	snv			8
rs738791	MMP11	0.851	0.120	22	23775338	intron variant	C/T	snv		0.37	6
rs937283	MDM2	0.716	0.200	12	68808384	5 prime UTR variant	A/G	snv		0.37	19
rs1329032366	PDLIM5	0.882	0.080	4	94654530	missense variant	A/G	snv	4.0E-06		5
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		36
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		484
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		47
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		135
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		56
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		17
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		20