DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of lung, C0242379

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
rs4898	TIMP1 ; SYN1 ; MIR4769	0.672	0.520	X	47585586	synonymous variant	T/C	snv	0.46	0.46	25
rs2070584	TIMP1 ; MIR4769 ; SYN1	0.790	0.200	X	47587120	intron variant	T/G	snv		0.44	8
rs6609533	TIMP1 ; MIR4769 ; SYN1	0.790	0.200	X	47585887	3 prime UTR variant	A/G;T	snv	0.46		7
rs1800264	DMD	0.827	0.120	X	32699141	missense variant	A/C;G	snv	5.5E-06; 8.3E-03		5
rs140920401	ARAF	0.882	0.080	X	47563284	missense variant	G/A	snv			3
rs188912830	MIR3202-1 ; MIR3202-2 ; TMEM187	0.882	0.080	X	153981098	non coding transcript exon variant	A/C	snv			3
rs7391689	NHSL2	0.882	0.080	X	72107652	intron variant	G/A;C	snv			3
rs807185	ATG4A	0.882	0.080	X	108097488	intron variant	A/T	snv			3
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs4633	COMT ; MIR4761	0.695	0.400	22	19962712	synonymous variant	C/T	snv	0.46	0.45	25
rs1065852	NDUFA6-DT ; LOC112268294 ; CYP2D6	0.695	0.360	22	42130692	missense variant	G/A	snv	0.21	0.19	19
rs2267437	DESI1 ; XRCC6	0.724	0.320	22	41620695	intron variant	C/A;G	snv			19
rs3747093	YDJC	0.732	0.200	22	21630090	upstream gene variant	G/A	snv		0.32	16
rs132770	DESI1 ; XRCC6	0.752	0.320	22	41621260	5 prime UTR variant	A/G	snv		0.83	14
rs5751129	XRCC6 ; DESI1	0.752	0.320	22	41619761	intron variant	C/T	snv		0.69	14
rs1057519911	MAPK1	0.776	0.160	22	21772875	missense variant	C/T	snv			10
rs132774	XRCC6	0.776	0.280	22	41635949	intron variant	C/G	snv		0.69	9
rs17728461	LOC105372988 ; HORMAD2	0.776	0.120	22	30202563	intron variant	C/G	snv		0.25	9
rs738791	MMP11	0.851	0.120	22	23775338	intron variant	C/T	snv		0.37	6
rs738792	MMP11	0.827	0.240	22	23779191	missense variant	C/T	snv	0.84	0.80	6
rs28382575	MMP11	0.851	0.120	22	23783502	synonymous variant	T/C	snv	2.2E-02	1.8E-02	5
rs36600	MTMR3	0.827	0.080	22	29941597	intron variant	T/C	snv		0.78	5
rs757163626	MIR4761 ; COMT	0.827	0.120	22	19962726	missense variant	C/T	snv	1.6E-05	7.0E-06	5
rs139293	APOBEC3H	0.882	0.080	22	39100331	missense variant	G/A;T	snv	2.3E-04; 0.27		4