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
rs917112	PLOD3	1.000	0.080	7	101213710	intron variant	T/C	snv		1.1E-02	1
rs2228612	DNMT1	0.763	0.160	19	10162696	missense variant	T/A;C;G	snv	0.14		12
rs11674595	IL1R2	0.763	0.200	2	101994530	intron variant	T/C	snv		0.22	13
rs2072472	IL1R2	0.732	0.200	2	102026557	intron variant	A/G	snv		0.24	13
rs6214	LINC02456 ; HELLPAR ; IGF1	0.672	0.400	12	102399791	3 prime UTR variant	C/T	snv		0.45	26
rs2094258	ERCC5 ; BIVM-ERCC5	0.701	0.280	13	102844409	intron variant	C/T	snv		0.18	20
rs2296147	BIVM-ERCC5 ; ERCC5	0.695	0.280	13	102846025	5 prime UTR variant	T/C	snv		0.38	21
rs873601	BIVM-ERCC5 ; ERCC5	0.677	0.360	13	102875987	3 prime UTR variant	G/A	snv		0.59	25
rs861530	LOC112268131 ; XRCC3 ; KLC1	0.732	0.320	14	103707786	3 prime UTR variant	T/C	snv		0.65	13
rs11184738	LOC105378885	1.000	0.080	1	106056773	intron variant	G/A	snv		7.3E-02	1
rs1805329	RAD23B	0.732	0.400	9	107322047	missense variant	C/T	snv	0.20	0.16	15
rs1364898025	ATM	0.925	0.080	11	108227656	missense variant	G/A	snv			3
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs246079	UNG	0.790	0.120	12	109109255	intron variant	A/G;T	snv			9
rs12229654		0.763	0.320	12	110976657	intergenic variant	T/G	snv		4.8E-03	20
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	25
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs3782886	BRAP	0.724	0.480	12	111672685	synonymous variant	T/C	snv	1.9E-02	5.9E-03	22
rs11066001	BRAP	0.763	0.360	12	111681367	intron variant	T/C	snv		5.8E-03	15
rs11066008	ACAD10	1.000	0.080	12	111702865	intron variant	A/G	snv		9.1E-03	1
rs11066015	ACAD10	0.925	0.120	12	111730205	intron variant	G/A	snv		5.9E-03	5
rs201745983	ALDH2	0.752	0.200	12	111783219	missense variant	G/A	snv	6.8E-05	7.7E-05	14
rs4646776	ALDH2	0.925	0.120	12	111792215	intron variant	G/A;C	snv	1.9E-02	5.8E-03	2
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs4767364	NAA25	0.807	0.160	12	112083644	intron variant	G/A	snv		0.45	8