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	AF GENOME	Num. diseases
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs9651118	MTHFR	0.683	0.480	1	11802157	intron variant	T/C	snv		0.18	20
rs2645429	FDFT1 ; LOC105379243	0.790	0.120	8	11802542	non coding transcript exon variant	A/G;T	snv			7
rs1458974438	STK11	0.807	0.080	19	1206957	missense variant	G/A	snv			9
rs677844	TNFRSF1B	0.851	0.080	1	12184261	intron variant	T/C	snv		0.22	4
rs1800449	LOX	0.641	0.400	5	122077513	missense variant	C/A;T	snv	4.0E-06; 0.17		33
rs1026411	LOC105375751 ; PCAT1	0.827	0.080	8	127014165	intron variant	G/A;C	snv		0.25	5
rs710886	LOC105375751 ; PCAT1	0.763	0.160	8	127014615	intron variant	C/T	snv		0.37	9
rs10505477	CASC8 ; PCAT1 ; POU5F1B	0.658	0.400	8	127395198	intron variant	A/G	snv		0.40	31
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs2853677	TERT	0.724	0.240	5	1287079	3 prime UTR variant	G/A	snv		0.63	19
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
rs402710	CLPTM1L	0.716	0.320	5	1320607	non coding transcript exon variant	C/T	snv	0.33	0.38	18
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs750758481	RAD50	0.851	0.080	5	132603476	missense variant	T/C	snv	8.0E-06	7.0E-06	4
rs16893344	CCN4	0.807	0.160	8	133194036	intron variant	C/T	snv		0.29	7
rs2977536	CCN4	0.851	0.080	8	133207034	intron variant	G/C	snv		0.36	4
rs11778573	CCN4	0.851	0.080	8	133216687	intron variant	T/G	snv		0.59	4
rs1046175	PAOX	0.851	0.080	10	133391446	stop gained	C/A;G;T	snv	1.2E-05; 0.88		4
rs31490	CLPTM1L	0.776	0.280	5	1344343	splice region variant	G/A;T	snv	0.37; 8.0E-06		8
rs895819	MIR23A ; LOC284454 ; MIR27A ; MIR24-2	0.623	0.560	19	13836478	non coding transcript exon variant	T/A;C;G	snv	0.34	0.38	46
rs3805213	NOCT ; ELF2	0.851	0.080	4	139044570	intron variant	C/T	snv		0.23	4
rs941759532	ERCC4	0.763	0.240	16	13932175	missense variant	C/G	snv			11