DisGeNET - a database of gene-disease associations

List of shared variants

Squamous cell carcinoma of lung, C0149782

Disease: Squamous cell 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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
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
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs886039484	TP53	0.641	0.440	17	7674888	missense variant	T/C;G	snv			32
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		31
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		25
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv			23
rs1801270	CDKN1A	0.689	0.400	6	36684194	missense variant	C/A;T	snv	0.15; 4.4E-05		22
rs1333040	CDKN2B-AS1	0.732	0.280	9	22083405	intron variant	C/G;T	snv			15
rs587782289	TP53	0.752	0.240	17	7674257	missense variant	A/C;G;T	snv			15
rs1057520004	TP53	0.752	0.240	17	7674884	missense variant	A/C;T	snv			12
rs121913465	EGFR ; EGFR-AS1	0.763	0.160	7	55181312	missense variant	G/T	snv			11
rs201701502	DDR2	0.851	0.080	1	162775837	missense variant	C/G;T	snv	1.5E-04	2.1E-05	5