DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of lung, C0242379

Source: CURATED ×

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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 GENOME	Num. diseases
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv	0.36	19
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv		19
rs2187668	LOC107986589 ; HLA-DQA2 ; HLA-DQA1	0.701	0.480	6	32638107	intron variant	C/T	snv	3.3E-03	18
rs56084662	FRY	0.701	0.280	13	32295727	3 prime UTR variant	G/A	snv	3.5E-03	18
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv		18
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv	0.48	17
rs75316749	LOC107986051	0.701	0.280	3	169043635	intergenic variant	A/G	snv	4.2E-02	17
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv	8.3E-03	17
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv	0.52	16
rs4246215	FADS2 ; FEN1	0.677	0.320	11	61796827	3 prime UTR variant	G/C;T	snv		16
rs174548	FADS2 ; FADS1	0.851	0.160	11	61803876	5 prime UTR variant	C/G;T	snv		15
rs587781991	TP53	0.724	0.240	17	7675208	missense variant	C/A;T	snv		14
rs10505477	CASC8 ; PCAT1 ; POU5F1B	0.658	0.400	8	127395198	intron variant	A/G	snv	0.40	13
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv		13
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv		13
rs12914385	CHRNA3	0.790	0.160	15	78606381	intron variant	C/A;T	snv		13
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv	0.37	13
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv		12
rs174577	FADS2	1.000	0.080	11	61837342	intron variant	C/A	snv	0.38	12
rs174583	FADS2	0.807	0.320	11	61842278	intron variant	C/T	snv	0.35	12
rs2735940	TERT	0.689	0.400	5	1296371	upstream gene variant	A/G	snv	0.49	11
rs174549	FADS2 ; FADS1	0.851	0.240	11	61803910	5 prime UTR variant	G/A	snv	0.26	10
rs174570	FADS2	0.882	0.200	11	61829740	intron variant	C/T	snv	0.15	10
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv	0.69	10
rs2395185	HLA-DRB9	0.724	0.360	6	32465390	intron variant	G/T	snv	0.29	10