DisGeNET - a database of gene-disease associations

List of shared variants

Malignant Neoplasms, C0006826

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	AF GENOME	Num. diseases
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv		0.31	48
rs2602141	TP53BP1	0.790	0.120	15	43432448	missense variant	T/G	snv	0.36	0.47	9
rs3212227	IL12B	0.566	0.840	5	159315942	3 prime UTR variant	T/G	snv		0.26	65
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs915894	NOTCH4	1.000	0.080	6	32222613	missense variant	T/G	snv	0.35	0.36	3
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		34
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs1047768	ERCC5 ; BIVM-ERCC5	0.695	0.320	13	102852167	synonymous variant	T/C	snv	0.52	0.59	20
rs11943456	TMEM165	0.708	0.320	4	55410167	intron variant	T/C	snv		0.42	18
rs17024869	NPAS2	0.708	0.320	2	100843581	intron variant	T/C	snv		8.3E-02	18
rs1799794	XRCC3 ; KLC1	0.763	0.320	14	103712930	splice region variant	T/C	snv		0.22	12
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs2296147	BIVM-ERCC5 ; ERCC5	0.695	0.280	13	102846025	5 prime UTR variant	T/C	snv		0.38	21
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs667282	CHRNA5	0.790	0.120	15	78571130	intron variant	T/C	snv		0.28	13
rs689465	PTGS2 ; PACERR	0.851	0.200	1	186681714	upstream gene variant	T/C	snv		0.14	7
rs689466	PACERR ; PTGS2	0.637	0.640	1	186681619	upstream gene variant	T/C	snv		0.17	33
rs733618	CTLA4	0.763	0.440	2	203866221	upstream gene variant	T/C	snv		0.10	12
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134