DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of esophagus, C0546837

Disease: Squamous cell carcinoma of esophagus

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
rs10484761		0.807	0.080	6	40834522	intergenic variant	T/C	snv		0.31	7
rs1800682	ACTA2 ; FAS	0.637	0.440	10	88990206	non coding transcript exon variant	A/G	snv		0.54	32
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs201745983	ALDH2	0.752	0.200	12	111783219	missense variant	G/A	snv	6.8E-05	7.7E-05	14
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
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
rs11473	BSG	0.882	0.080	19	582982	3 prime UTR variant	C/A;T	snv			4
rs3176352	CDKN1A	0.807	0.120	6	36684562	intron variant	C/A;G;T	snv	8.0E-06; 0.37; 2.0E-05		7
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
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
rs1595066	ERBB4	0.882	0.080	2	211377000	3 prime UTR variant	C/T	snv		0.28	4
rs16845990	ERBB4	0.882	0.080	2	211378286	3 prime UTR variant	T/A;C	snv			4
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs2094258	ERCC5 ; BIVM-ERCC5	0.701	0.280	13	102844409	intron variant	C/T	snv		0.18	20
rs1035142	FLACC1	0.807	0.200	2	201288355	3 prime UTR variant	T/C;G	snv		0.54	7
rs13016963	FLACC1	0.851	0.080	2	201298088	intron variant	A/G	snv		0.59	5
rs7813	GEMIN4	0.689	0.360	17	744946	missense variant	G/A;C	snv	0.63		22
rs6898743	GHR	0.776	0.160	5	42602390	intron variant	C/G	snv		0.78	9
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs11066280	HECTD4	0.742	0.280	12	112379979	intron variant	T/A	snv		7.0E-03	27
rs2074356	HECTD4	0.763	0.280	12	112207597	intron variant	G/A	snv		3.8E-03	18