DisGeNET - a database of gene-disease associations

List of shared variants

Carcinogenesis, C0596263

Disease: Malignant neoplasm of lung

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 GENOME	Num. diseases
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv	0.51	58
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv		72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv		72
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		214
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv		73
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv		24
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv		24
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs12255372	TCF7L2	0.667	0.480	10	113049143	intron variant	G/A;T	snv		28
rs12740674	GNG12-AS1 ; WLS	0.882	0.080	1	68121775	intron variant	C/T	snv	0.34	4
rs12826786		0.683	0.480	12	53961717	upstream gene variant	C/T	snv	0.38	26
rs132770	DESI1 ; XRCC6	0.752	0.320	22	41621260	5 prime UTR variant	A/G	snv	0.83	14
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv		36
rs1447295	CASC8	0.658	0.400	8	127472793	intron variant	A/C;T	snv		29
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins	8.8E-02	31
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv		33
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv	0.15	39
rs2267437	DESI1 ; XRCC6	0.724	0.320	22	41620695	intron variant	C/A;G	snv		19
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv	0.31	48
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins		56
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv		306
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv	0.48	42
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv	0.46	64
rs4646903	CYP1A1	0.630	0.640	15	74719300	downstream gene variant	A/G;T	snv	0.18	36
rs5751129	XRCC6 ; DESI1	0.752	0.320	22	41619761	intron variant	C/T	snv	0.69	14