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
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
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs11674595	IL1R2	0.763	0.200	2	101994530	intron variant	T/C	snv		0.22	13
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		21
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06		24
rs12229654		0.763	0.320	12	110976657	intergenic variant	T/G	snv		4.8E-03	20
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs12508222	FAT4	0.925	0.080	4	125449492	missense variant	G/A;T	snv	4.3E-02; 2.0E-05		3
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv		7.0E-06	37
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs12951053	TP53	0.732	0.160	17	7674089	intron variant	A/C	snv		0.10	14
rs13016963	FLACC1	0.851	0.080	2	201298088	intron variant	A/G	snv		0.59	5
rs13042395	SLC52A3	0.752	0.160	20	773867	intron variant	C/T	snv		5.9E-02	13
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1321311		0.742	0.160	6	36655123	regulatory region variant	C/A	snv		0.28	15
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs1364898025	ATM	0.925	0.080	11	108227656	missense variant	G/A	snv			3
rs145188037	IGFBP3	0.925	0.080	7	45914866	missense variant	G/A	snv	1.1E-02	9.9E-03	4
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs153109	IL27	0.623	0.600	16	28507775	intron variant	T/C	snv		0.43	37
rs1567047	FAT4	0.925	0.080	4	125451587	missense variant	G/A	snv	0.27	0.22	3
rs1595066	ERBB4	0.882	0.080	2	211377000	3 prime UTR variant	C/T	snv		0.28	4
rs16845990	ERBB4	0.882	0.080	2	211378286	3 prime UTR variant	T/A;C	snv			4