DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of esophagus, C0546837

Disease: Esophageal Neoplasms

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
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs465498	CLPTM1L	0.776	0.200	5	1325688	non coding transcript exon variant	A/G	snv		0.46	9
rs4711998	IL17A	0.708	0.360	6	52185555	upstream gene variant	A/G	snv		0.64	16
rs750408412	CYP2E1	0.925	0.080	10	133538938	missense variant	A/G	snv			3
rs753955	LOC105370113	0.776	0.120	13	23719720	regulatory region variant	A/G	snv		0.50	9
rs776933870	PLCE1	0.925	0.080	10	94306632	missense variant	A/G	snv	8.0E-06		3
rs879253942	TP53	0.677	0.400	17	7673826	missense variant	A/G	snv			28
rs917870680	MDM2	0.925	0.080	12	68839304	missense variant	A/G	snv			3
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs2014300	RUNX1	0.851	0.080	21	34985564	intron variant	A/G;T	snv		0.75	5
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs246079	UNG	0.790	0.120	12	109109255	intron variant	A/G;T	snv			9
rs312986		0.925	0.080	18	1898710	intron variant	A/G;T	snv			3
rs4646903	CYP1A1	0.630	0.640	15	74719300	downstream gene variant	A/G;T	snv		0.18	36
rs10058728	CSNK1A1	1.000	0.080	5	149524529	intron variant	A/T	snv		0.64	2
rs115510139	COL6A3	0.827	0.120	2	237331726	intron variant	A/T	snv		0.60	6
rs10052657	PDE4D	0.807	0.120	5	59111944	intron variant	C/A	snv		0.17	7
rs1321311		0.742	0.160	6	36655123	regulatory region variant	C/A	snv		0.28	15
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	25
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06		24
rs3176352	CDKN1A	0.807	0.120	6	36684562	intron variant	C/A;G;T	snv	8.0E-06; 0.37; 2.0E-05		7
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs11473	BSG	0.882	0.080	19	582982	3 prime UTR variant	C/A;T	snv			4
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		21