DisGeNET - a database of gene-disease associations

List of associated variants

Squamous cell carcinoma of esophagus, C0279626

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
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		78
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		53
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv		0.31	48
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47