DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of esophagus, C0546837

Source: ALL

Results per page

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
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
rs11066280	HECTD4	0.742	0.280	12	112379979	intron variant	T/A	snv		7.0E-03	27
rs11184738	LOC105378885	1.000	0.080	1	106056773	intron variant	G/A	snv		7.3E-02	1
rs11187844	PLCE1	1.000	0.080	10	94296872	intron variant	C/A	snv		0.12	1
rs11187853	PLCE1	1.000	0.080	10	94312471	intron variant	G/A;C	snv			1
rs11187876	NOC3L ; PLCE1	1.000	0.080	10	94330382	3 prime UTR variant	C/T	snv		0.31	1
rs11265282	LOC105371464 ; FCRL6	1.000	0.080	1	159804618	intron variant	T/C	snv		0.26	1
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1131691021	TP53	0.716	0.120	17	7675097	missense variant	A/C;G	snv			21
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
rs11473	BSG	0.882	0.080	19	582982	3 prime UTR variant	C/A;T	snv			4
rs11548103	S100A14	0.882	0.080	1	153615864	splice region variant	C/T	snv	0.40	0.39	4
rs115510139	COL6A3	0.827	0.120	2	237331726	intron variant	A/T	snv		0.60	6
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
rs11934363	SLC2A9	1.000	0.080	4	9910477	intron variant	A/G	snv		0.24	1
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
rs12231737	TRAFD1	0.925	0.120	12	112136812	intron variant	C/T	snv		5.9E-03	5