DisGeNET - a database of gene-disease associations

List of shared variants

Squamous cell carcinoma, C0007137

Disease: Carcinoma of lung

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
rs8178085	PRKDC	0.851	0.080	8	47898144	intron variant	T/G	snv		2.3E-02	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
rs2285947	DNAH11	0.807	0.120	7	21544470	intron variant	G/A	snv		0.44	7
rs3087386	REV1	0.790	0.160	2	99439044	missense variant	A/G	snv	0.58	0.61	8
rs1458974438	STK11	0.807	0.080	19	1206957	missense variant	G/A	snv			9
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
rs2233679	PIN1 ; LOC100996288	0.763	0.360	19	9834678	splice region variant	C/T	snv		0.59	11
rs2494938	LRFN2	0.752	0.240	6	40568389	intron variant	G/A	snv		0.51	11
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv		0.68	13
rs3813867	LOC107984284 ; CYP2E1	0.732	0.240	10	133526101	intron variant	G/A;C	snv			13
rs2233678	PIN1 ; LOC100996288	0.732	0.360	19	9834503	non coding transcript exon variant	G/A;C	snv			14
rs751402	ERCC5 ; BIVM-ERCC5	0.724	0.360	13	102845848	5 prime UTR variant	A/G	snv		0.76	15
rs735482	CD3EAP ; ERCC1	0.742	0.160	19	45408744	missense variant	A/C	snv	0.21	0.20	16
rs1799930	NAT2	0.716	0.400	8	18400593	missense variant	G/A	snv	0.27	0.27	17
rs402710	CLPTM1L	0.716	0.320	5	1320607	non coding transcript exon variant	C/T	snv	0.33	0.38	18
rs1047840	EXO1	0.708	0.280	1	241878999	missense variant	G/A	snv	0.36	0.40	19
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
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
rs1801270	CDKN1A	0.689	0.400	6	36684194	missense variant	C/A;T	snv	0.15; 4.4E-05		22
rs1899663	HOTAIR	0.683	0.280	12	53967210	intron variant	C/A	snv		0.28	22