DisGeNET - a database of gene-disease associations

List of shared variants

Carcinoma of lung, C0684249

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 GENOME	Num. diseases
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
rs1057519911	MAPK1	0.776	0.160	22	21772875	missense variant	C/T	snv		10
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv		23
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
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs121913465	EGFR ; EGFR-AS1	0.763	0.160	7	55181312	missense variant	G/T	snv		11
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv		63
rs12334811	PRKDC	0.851	0.080	8	47920417	intron variant	G/A	snv	0.15	4
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv	7.0E-06	37
rs12587742	DCAF4	0.851	0.080	14	72926683	intron variant	G/A	snv	0.18	5
rs1389500636	EGFR	0.827	0.080	7	55156796	missense variant	G/A	snv		6
rs1458974438	STK11	0.807	0.080	19	1206957	missense variant	G/A	snv		9
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv	0.15	39
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv	0.22	30
rs1899663	HOTAIR	0.683	0.280	12	53967210	intron variant	C/A	snv	0.28	22
rs2031920	LOC107984284 ; CYP2E1	0.695	0.240	10	133526341	non coding transcript exon variant	C/T	snv	3.1E-02	20
rs2233678	PIN1 ; LOC100996288	0.732	0.360	19	9834503	non coding transcript exon variant	G/A;C	snv		14
rs2233679	PIN1 ; LOC100996288	0.763	0.360	19	9834678	splice region variant	C/T	snv	0.59	11
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv	0.68	13
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv	0.31	48
rs2285947	DNAH11	0.807	0.120	7	21544470	intron variant	G/A	snv	0.44	7
rs2494938	LRFN2	0.752	0.240	6	40568389	intron variant	G/A	snv	0.51	11
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv	0.52	83