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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs1884444	IL23R ; C1orf141	0.637	0.600	1	67168129	missense variant	G/T	snv	0.52	0.51	34
rs6682925	C1orf141 ; IL23R	0.776	0.160	1	67165579	intron variant	C/T	snv		0.47	11
rs1801173	TP73	0.851	0.120	1	3682346	5 prime UTR variant	C/T	snv	0.20	0.18	5
rs2273953	TP73	0.851	0.120	1	3682336	5 prime UTR variant	G/A;T	snv	0.20; 3.3E-04		5
rs11548103	S100A14	0.882	0.080	1	153615864	splice region variant	C/T	snv	0.40	0.39	4
rs11184738	LOC105378885	1.000	0.080	1	106056773	intron variant	G/A	snv		7.3E-02	1
rs11265282	LOC105371464 ; FCRL6	1.000	0.080	1	159804618	intron variant	T/C	snv		0.26	1
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
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
rs1035142	FLACC1	0.807	0.200	2	201288355	3 prime UTR variant	T/C;G	snv		0.54	7
rs452204	IL1RN	0.807	0.200	2	113131484	intron variant	G/A	snv		0.45	7
rs10931936	CASP8	0.827	0.120	2	201279205	intron variant	T/C	snv		0.72	6
rs115510139	COL6A3	0.827	0.120	2	237331726	intron variant	A/T	snv		0.60	6
rs13016963	FLACC1	0.851	0.080	2	201298088	intron variant	A/G	snv		0.59	5
rs315919	IL1RN	0.851	0.120	2	113118636	intron variant	T/G	snv		0.55	5