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 EXOME	AF GENOME	Num. diseases
rs12334811	PRKDC	0.851	0.080	8	47920417	intron variant	G/A	snv		0.15	4
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
rs8178085	PRKDC	0.851	0.080	8	47898144	intron variant	T/G	snv		2.3E-02	4
rs2285947	DNAH11	0.807	0.120	7	21544470	intron variant	G/A	snv		0.44	7
rs397517108	EGFR ; EGFR-AS1	0.790	0.120	7	55181312	missense variant	GC/TT	mnv			9
rs1057519911	MAPK1	0.776	0.160	22	21772875	missense variant	C/T	snv			10
rs121913465	EGFR ; EGFR-AS1	0.763	0.160	7	55181312	missense variant	G/T	snv			11
rs3087386	REV1	0.790	0.160	2	99439044	missense variant	A/G	snv	0.58	0.61	8
rs735482	CD3EAP ; ERCC1	0.742	0.160	19	45408744	missense variant	A/C	snv	0.21	0.20	16
rs937283	MDM2	0.716	0.200	12	68808384	5 prime UTR variant	A/G	snv		0.37	19
rs2031920	LOC107984284 ; CYP2E1	0.695	0.240	10	133526341	non coding transcript exon variant	C/T	snv		3.1E-02	20
rs2494938	LRFN2	0.752	0.240	6	40568389	intron variant	G/A	snv		0.51	11
rs3813867	LOC107984284 ; CYP2E1	0.732	0.240	10	133526101	intron variant	G/A;C	snv			13
rs1047840	EXO1	0.708	0.280	1	241878999	missense variant	G/A	snv	0.36	0.40	19
rs1899663	HOTAIR	0.683	0.280	12	53967210	intron variant	C/A	snv		0.28	22
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		25
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv		0.68	13
rs402710	CLPTM1L	0.716	0.320	5	1320607	non coding transcript exon variant	C/T	snv	0.33	0.38	18
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv			23
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs1800975	XPA	0.701	0.360	9	97697296	5 prime UTR variant	T/C;G	snv	0.63; 4.5E-06; 4.5E-06		19