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
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs31563		0.851	0.160	5	135899917	intron variant	C/A;T	snv			5
rs583522	WAKMAR2 ; TNFAIP3	0.925	0.080	6	137868747	intron variant	C/A;T	snv			3
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs886063150	CA2	0.925	0.080	8	85477151	missense variant	C/A;T	snv	8.0E-06		3
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs17728461	LOC105372988 ; HORMAD2	0.776	0.120	22	30202563	intron variant	C/G	snv		0.25	9
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs6898743	GHR	0.776	0.160	5	42602390	intron variant	C/G	snv		0.78	9
rs1039808	FAT4	0.925	0.080	4	125318831	missense variant	C/G;T	snv	4.0E-06; 0.41		3
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs753225272	FAT4	0.925	0.080	4	125491730	missense variant	C/G;T	snv	8.0E-06; 4.0E-06		3
rs9841504	ZBTB20	0.827	0.120	3	114643917	intron variant	C/G;T	snv			7
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs1014867	FAT4	0.925	0.080	4	125491736	missense variant	C/T	snv	4.9E-02	4.9E-02	3
rs11548103	S100A14	0.882	0.080	1	153615864	splice region variant	C/T	snv	0.40	0.39	4
rs11568820	VDR	0.672	0.480	12	47908762	intron variant	C/T	snv		0.38	27
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs13042395	SLC52A3	0.752	0.160	20	773867	intron variant	C/T	snv		5.9E-02	13
rs1595066	ERBB4	0.882	0.080	2	211377000	3 prime UTR variant	C/T	snv		0.28	4
rs1800477	BCL2	0.763	0.480	18	63318540	missense variant	C/T	snv	1.8E-02	4.9E-03	12
rs1801173	TP73	0.851	0.120	1	3682346	5 prime UTR variant	C/T	snv	0.20	0.18	5