DisGeNET - a database of gene-disease associations

List of associated variants

Primary malignant neoplasm of lung, C1306460

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
rs1045411	HMGB1	0.708	0.360	13	30459095	3 prime UTR variant	C/T	snv		0.20	18
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1046175	PAOX	0.851	0.080	10	133391446	stop gained	C/A;G;T	snv	1.2E-05; 0.88		4
rs1046282	ERCC1 ; CD3EAP ; PPP1R13L	0.776	0.160	19	45407414	3 prime UTR variant	A/G	snv		0.30	10
rs1047768	ERCC5 ; BIVM-ERCC5	0.695	0.320	13	102852167	synonymous variant	T/C	snv	0.52	0.59	20
rs1047840	EXO1	0.708	0.280	1	241878999	missense variant	G/A	snv	0.36	0.40	19
rs1047972	AURKA	0.716	0.240	20	56386407	missense variant	T/C	snv	0.85	0.84	19
rs10487372	CFTR ; CFTR-AS1	0.882	0.080	7	117560845	intron variant	C/T	snv		0.13	3
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs104886026	EGFR	0.851	0.080	7	55200333	missense variant	G/A	snv			4
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1049337	CAV1	0.882	0.080	7	116560533	3 prime UTR variant	C/T	snv		0.25	3
rs1050450	GPX1	0.623	0.600	3	49357401	missense variant	G/A	snv	0.28	0.30	43
rs10505477	CASC8 ; PCAT1 ; POU5F1B	0.658	0.400	8	127395198	intron variant	A/G	snv		0.40	31
rs10506868	VTI1A	0.716	0.160	10	112559621	intron variant	C/T	snv		3.1E-02	16
rs10508266		0.882	0.080	10	3797822	intergenic variant	G/A;T	snv			3
rs10511729	LOC101929563	0.742	0.240	9	23557229	intron variant	T/G	snv		0.35	11
rs10512948		0.882	0.080	5	8233238	intron variant	T/C	snv		0.15	3
rs10514231	ATG10	0.807	0.160	5	82011593	intron variant	C/T	snv		0.56	6
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs1051753269	EGFR	0.790	0.120	7	55174029	missense variant	G/A	snv		7.0E-06	7
rs10519203	HYKK	0.851	0.080	15	78521704	intron variant	G/A	snv		0.67	8
rs10519717	LOC105377462	0.851	0.080	4	144559188	intron variant	T/C	snv		0.21	4
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147