DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of lung, C0242379

Disease: Squamous cell carcinoma of esophagus

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
rs107822	MIR219A1 ; RING1	0.827	0.120	6	33207798	upstream gene variant	C/T	snv	0.27	0.28	5
rs238415	ERCC2	0.851	0.120	19	45353977	intron variant	C/A;G;T	snv			4
rs3916874	ERCC2	0.851	0.120	19	45353668	intron variant	C/A;G	snv		0.19	4
rs667282	CHRNA5	0.790	0.120	15	78571130	intron variant	T/C	snv		0.28	13
rs121913444	EGFR	0.724	0.160	7	55191831	missense variant	T/A;C;G	snv			18
rs13042395	SLC52A3	0.752	0.160	20	773867	intron variant	C/T	snv		5.9E-02	13
rs2072454	EGFR	0.763	0.160	7	55146655	synonymous variant	C/T	snv	0.51	0.51	9
rs2736108		0.807	0.160	5	1297373	upstream gene variant	C/T	snv		0.24	6
rs664677	ATM	0.807	0.160	11	108272455	intron variant	C/A;T	snv		0.65	8
rs451360	CLPTM1L	0.827	0.200	5	1319565	intron variant	C/A;T	snv			5
rs937283	MDM2	0.716	0.200	12	68808384	5 prime UTR variant	A/G	snv		0.37	19
rs10511729	LOC101929563	0.742	0.240	9	23557229	intron variant	T/G	snv		0.35	11
rs10811474		0.742	0.240	9	21114238	intergenic variant	A/G	snv		0.44	11
rs12683422	LINGO2	0.742	0.240	9	27969442	intron variant	C/T	snv		5.7E-02	11
rs2031920	LOC107984284 ; CYP2E1	0.695	0.240	10	133526341	non coding transcript exon variant	C/T	snv		3.1E-02	20
rs213210	MIR219A1 ; RING1	0.742	0.240	6	33208047	upstream gene variant	A/C;G	snv			11
rs3213245	XRCC1 ; PINLYP	0.742	0.240	19	43575535	5 prime UTR variant	G/A	snv	0.65	0.60	13
rs3731239	CDKN2A	0.763	0.240	9	21974219	intron variant	A/G	snv		0.26	10
rs3813867	LOC107984284 ; CYP2E1	0.732	0.240	10	133526101	intron variant	G/A;C	snv			13
rs4072037	MUC1	0.732	0.240	1	155192276	splice acceptor variant	C/A;T	snv	0.59		22
rs140693	MBD4	0.763	0.280	3	129436608	missense variant	C/T	snv	5.8E-02	3.1E-02	10
rs2073498	RASSF1	0.763	0.280	3	50332115	missense variant	C/A	snv	9.6E-02	8.0E-02	12
rs3764340	WWOX	0.807	0.280	16	78432540	missense variant	C/G	snv	7.1E-02	7.4E-02	9
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs2267437	DESI1 ; XRCC6	0.724	0.320	22	41620695	intron variant	C/A;G	snv			19