DisGeNET - a database of gene-disease associations

List of shared variants

Non-Small Cell Lung Carcinoma, C0007131

Disease: Squamous cell carcinoma of lung

Source: CLINVAR ×

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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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			21
rs17851045	KRAS	0.672	0.400	12	25227341	missense variant	T/A;G	snv	4.0E-06		15
rs121913357	BRAF	0.742	0.320	7	140781603	stop gained	C/A;G;T	snv			11
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			11
rs121913351	BRAF	0.776	0.240	7	140781611	missense variant	C/A;G;T	snv	4.0E-06		9
rs121913428	EGFR	0.827	0.120	7	55174015	missense variant	G/A;C	snv			4
rs121913444	EGFR	0.724	0.160	7	55191831	missense variant	T/A;C;G	snv			3
rs121913465	EGFR ; EGFR-AS1	0.763	0.160	7	55181312	missense variant	G/T	snv			3