DisGeNET - a database of gene-disease associations

List of shared variants

Carcinoma of lung, C0684249

Disease: Squamous cell 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	AF GENOME	Num. diseases
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs3813867	LOC107984284 ; CYP2E1	0.732	0.240	10	133526101	intron variant	G/A;C	snv			13
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs397517108	EGFR ; EGFR-AS1	0.790	0.120	7	55181312	missense variant	GC/TT	mnv			9
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	24
rs751402	ERCC5 ; BIVM-ERCC5	0.724	0.360	13	102845848	5 prime UTR variant	A/G	snv		0.76	15
rs8178085	PRKDC	0.851	0.080	8	47898144	intron variant	T/G	snv		2.3E-02	4
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs886039484	TP53	0.641	0.440	17	7674888	missense variant	T/C;G	snv			32
rs920778	HOTAIR	0.633	0.480	12	53966448	intron variant	G/A	snv		0.57	36
rs937283	MDM2	0.716	0.200	12	68808384	5 prime UTR variant	A/G	snv		0.37	19
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		25
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1800975	XPA	0.701	0.360	9	97697296	5 prime UTR variant	T/C;G	snv	0.63; 4.5E-06; 4.5E-06		19
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72