DisGeNET - a database of gene-disease associations

List of shared variants

Esophageal carcinoma, C0152018

Disease: Malignant neoplasm 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
rs3181052	IL1RN	0.851	0.120	2	113128472	intron variant	G/A	snv		0.16	5
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	25
rs452204	IL1RN	0.807	0.200	2	113131484	intron variant	G/A	snv		0.45	7
rs4767364	NAA25	0.807	0.160	12	112083644	intron variant	G/A	snv		0.45	8
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			25
rs583522	WAKMAR2 ; TNFAIP3	0.925	0.080	6	137868747	intron variant	C/A;T	snv			3
rs6682925	C1orf141 ; IL23R	0.776	0.160	1	67165579	intron variant	C/T	snv		0.47	11
rs6720283	COL6A3	0.882	0.120	2	237401239	intron variant	G/A	snv		0.31	4
rs6869366	XRCC4 ; TMEM167A	0.701	0.280	5	83075927	intron variant	T/G	snv		9.2E-02	18
rs6898743	GHR	0.776	0.160	5	42602390	intron variant	C/G	snv		0.78	9
rs7248488	ZNF208	0.851	0.160	19	22005907	intron variant	A/C	snv		0.59	5
rs738722	CHEK2	0.882	0.120	22	28734024	intron variant	T/C	snv		0.67	4
rs7922612	PLCE1	0.752	0.080	10	94051682	intron variant	C/T	snv		0.39	14
rs8103163	ZNF208	0.882	0.120	19	21991950	intron variant	A/C	snv		0.59	4
rs9841504	ZBTB20	0.827	0.120	3	114643917	intron variant	C/G;T	snv			7
rs1321311		0.742	0.160	6	36655123	regulatory region variant	C/A	snv		0.28	15
rs753955	LOC105370113	0.776	0.120	13	23719720	regulatory region variant	A/G	snv		0.50	9
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
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
rs1014867	FAT4	0.925	0.080	4	125491736	missense variant	C/T	snv	4.9E-02	4.9E-02	3
rs1039808	FAT4	0.925	0.080	4	125318831	missense variant	C/G;T	snv	4.0E-06; 0.41		3
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1047972	AURKA	0.716	0.240	20	56386407	missense variant	T/C	snv	0.85	0.84	19