DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of esophagus, C0546837

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
rs3747093	YDJC	0.732	0.200	22	21630090	upstream gene variant	G/A	snv		0.32	16
rs17728461	LOC105372988 ; HORMAD2	0.776	0.120	22	30202563	intron variant	C/G	snv		0.25	9
rs2236142	HSCB ; CHEK2	0.827	0.120	22	28741956	5 prime UTR variant	G/C	snv		0.66	6
rs1534891	CSNK1E ; TPTEP2-CSNK1E	0.827	0.200	22	38299094	intron variant	T/C	snv		0.90	5
rs738722	CHEK2	0.882	0.120	22	28734024	intron variant	T/C	snv		0.67	4
rs13054361	TPTEP2-CSNK1E	1.000	0.080	22	38336819	intron variant	G/A	snv		9.3E-02	1
rs7289981	TPTEP2-CSNK1E	1.000	0.080	22	38323957	intron variant	C/T	snv		0.18	1
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs2014300	RUNX1	0.851	0.080	21	34985564	intron variant	A/G;T	snv		0.75	5
rs2833473	FBXW11P1	1.000	0.080	21	31627241	non coding transcript exon variant	G/A	snv		0.13	1
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs1047972	AURKA	0.716	0.240	20	56386407	missense variant	T/C	snv	0.85	0.84	19
rs13042395	SLC52A3	0.752	0.160	20	773867	intron variant	C/T	snv		5.9E-02	13
rs6062927	KCNQ2	1.000	0.080	20	63424660	intron variant	G/A	snv		0.21	1
rs6123557		1.000	0.080	20	56232196	intergenic variant	C/T	snv		0.21	1
rs8120594	NANP	1.000	0.080	20	25619019	intron variant	A/G	snv		0.17	1
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs895819	MIR23A ; LOC284454 ; MIR27A ; MIR24-2	0.623	0.560	19	13836478	non coding transcript exon variant	T/A;C;G	snv	0.34	0.38	46