DisGeNET - a database of gene-disease associations

List of associated variants

Small cell carcinoma of lung, C0149925

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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	187
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
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
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			51
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		47
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	44
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		43
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	36
rs16969968	CHRNA5	0.653	0.360	15	78590583	missense variant	G/A	snv	0.26	0.24	34
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	31
rs4759314	HOTAIR	0.649	0.440	12	53968051	non coding transcript exon variant	G/A	snv		0.93	31
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		24
rs886039484	TP53	0.641	0.440	17	7674888	missense variant	T/C;G	snv			23
rs1899663	HOTAIR	0.683	0.280	12	53967210	intron variant	C/A	snv		0.28	22
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			22
rs74799832	RET	0.662	0.280	10	43121968	missense variant	T/C	snv	4.0E-06		21