DisGeNET - a database of gene-disease associations

List of associated variants

Adenocarcinoma Of Esophagus, C0279628

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
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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
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
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
rs696217	GHRL ; GHRLOS	0.662	0.640	3	10289773	missense variant	G/T	snv	8.8E-02	7.1E-02	32
rs2297518	NOS2	0.658	0.480	17	27769571	missense variant	G/A	snv	0.18	0.17	30
rs2294008	PSCA ; JRK	0.672	0.320	8	142680513	5 prime UTR variant	C/T	snv	0.46	0.45	28
rs3731249	CDKN2A	0.683	0.320	9	21970917	missense variant	C/A;G;T	snv	2.1E-02		23
rs3088440	CDKN2A ; CDKN2A-DT	0.776	0.240	9	21968160	3 prime UTR variant	G/A	snv		0.13	12
rs9257809	OR12D3 ; OR5V1	0.790	0.320	6	29388554	intron variant	A/G	snv		5.8E-02	10
rs2178146		0.827	0.080	16	86430089	downstream gene variant	T/C	snv		0.31	8
rs756340448	ERCC2	0.790	0.240	19	45369135	synonymous variant	G/A	snv	4.0E-06	7.0E-06	8
rs17757541	BCL2	0.827	0.240	18	63212453	intron variant	C/G;T	snv			7
rs1035142	FLACC1	0.807	0.200	2	201288355	3 prime UTR variant	T/C;G	snv		0.54	7