DisGeNET - a database of gene-disease associations

List of associated variants

Squamous cell carcinoma of lung, C0149782

Source: CLINVAR ×

Results per page

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		37
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			35
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	1
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			11
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			30
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv			23
rs1057519925	PIK3CA	0.683	0.560	3	179210291	missense variant	G/A;C	snv			23
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		22
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		20
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			1
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			1
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			1
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			20
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs28934874	TP53	0.695	0.480	17	7675161	missense variant	G/A;C;T	snv			21
rs587781525	TP53	0.689	0.480	17	7673778	missense variant	T/A;C;G	snv			20
rs764146326	TP53	0.662	0.480	17	7673779	missense variant	C/A;G;T	snv	4.0E-06		20