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
rs2094258	ERCC5 ; BIVM-ERCC5	0.701	0.280	13	102844409	intron variant	C/T	snv		0.18	20
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
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs246079	UNG	0.790	0.120	12	109109255	intron variant	A/G;T	snv			9
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
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
rs4767364	NAA25	0.807	0.160	12	112083644	intron variant	G/A	snv		0.45	8
rs2074356	HECTD4	0.763	0.280	12	112207597	intron variant	G/A	snv		3.8E-03	18
rs11066280	HECTD4	0.742	0.280	12	112379979	intron variant	T/A	snv		7.0E-03	27
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs2031920	LOC107984284 ; CYP2E1	0.695	0.240	10	133526341	non coding transcript exon variant	C/T	snv		3.1E-02	20
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
rs11548103	S100A14	0.882	0.080	1	153615864	splice region variant	C/T	snv	0.40	0.39	4
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
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
rs2244438	TRAK2	0.882	0.080	2	201387816	missense variant	G/A;T	snv	0.29; 4.0E-06		4
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1595066	ERBB4	0.882	0.080	2	211377000	3 prime UTR variant	C/T	snv		0.28	4