DisGeNET - a database of gene-disease associations

List of associated variants

Squamous cell carcinoma of lung, C0149782

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
rs121913376	BRAF	0.925	0.080	7	140781597	missense variant	C/A;T	snv			1
rs1057519789	DDR2	1.000	0.080	1	162775707	missense variant	A/G;T	snv	4.0E-06		1
rs1057519790	DDR2	1.000	0.080	1	162778617	missense variant	G/T	snv			1
rs144594252	DDR2	0.882	0.080	1	162754625	missense variant	C/G	snv	6.8E-05	5.6E-05	1
rs376303676	DDR2	1.000	0.080	1	162759881	missense variant	G/A;T	snv	8.0E-06		1
rs578015216	DDR2	1.000	0.080	1	162759840	missense variant	T/C;G	snv	2.8E-05		1
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
rs34192549	EPHA2	1.000	0.080	1	16137994	missense variant	C/G;T	snv	2.5E-02		1
rs1057519791	FGFR2	1.000	0.080	10	121518810	missense variant	G/C	snv			1
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	1
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		1
rs764449808	STK11	1.000	0.080	19	1218494	missense variant	A/G	snv	1.2E-05	3.5E-05	1
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1
rs150036236	EGFR	0.925	0.080	7	55191741	missense variant	G/A	snv	4.8E-05	3.5E-05	2
rs397517097	EGFR	0.851	0.080	7	55174777	missense variant	T/C	snv			2
rs121918499	FGFR2	0.925	0.160	10	121520048	missense variant	C/A;G	snv			2
rs763733111	PPP6C	0.925	0.120	9	125149801	missense variant	G/A	snv	4.0E-06		2
rs1057520039	STK11	0.882	0.200	19	1207169	stop gained	C/G;T	snv			2
rs730881972	STK11	1.000	0.080	19	1220395	missense variant	G/C;T	snv			2
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
rs104894104	CDKN2A	0.790	0.160	9	21971019	missense variant	G/A;T	snv			4
rs121913428	EGFR	0.827	0.120	7	55174015	missense variant	G/A;C	snv			4