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
rs11203366	PADI4	0.925	0.200	1	17331039	missense variant	G/A	snv	0.56	0.55	2
rs197412	DDX20	1.000	0.080	1	111766331	missense variant	T/C	snv	0.43	0.49	2
rs2240337	PADI4	0.925	0.200	1	17347727	intron variant	C/T	snv		9.5E-02	2
rs3218625	PTGS2	0.925	0.240	1	186674409	missense variant	C/T	snv	1.6E-03	5.0E-04	2
rs3829868	CRNN ; FLG-AS1	0.925	0.080	1	152409644	missense variant	C/T	snv	0.21	0.15	2
rs11677	PLA2G2A	1.000	0.080	1	19975471	3 prime UTR variant	G/A	snv		9.5E-02	1
rs1170595036	SDHC	1.000	0.080	1	161323623	synonymous variant	T/C	snv	4.0E-06		1
rs1886302	PADI4	1.000	0.080	1	17308901	intron variant	A/G	snv		0.36	1
rs2294750		1.000	0.080	1	10824979	regulatory region variant	G/A	snv		0.10	1
rs2477137		1.000	0.080	1	17304110	upstream gene variant	G/T	snv		0.20	1
rs6573	RAP1A ; INKA2	1.000	0.080	1	111712767	3 prime UTR variant	C/A	snv		0.12	1
rs6683039	IL23R ; C1orf141	1.000	0.080	1	67165650	intron variant	C/T	snv		0.47	1
rs759640288	PIK3CD	1.000	0.080	1	9720853	missense variant	G/A	snv	8.3E-06		1
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs2227982	LOC105373977 ; PDCD1	0.677	0.480	2	241851281	missense variant	G/A	snv	9.2E-02	4.3E-02	24
rs10204525	PDCD1	0.701	0.440	2	241850169	3 prime UTR variant	C/T	snv		0.21	20
rs2227981	LOC105373977 ; PDCD1	0.763	0.400	2	241851121	synonymous variant	A/C;G	snv	1.6E-04; 0.63		12
rs36084323	PDCD1	0.807	0.280	2	241859444	upstream gene variant	C/T	snv		5.4E-02	8
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
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
rs2244438	TRAK2	0.882	0.080	2	201387816	missense variant	G/A;T	snv	0.29; 4.0E-06		4
rs3738894	PRKCE	0.882	0.080	2	46187030	3 prime UTR variant	G/A	snv		1.1E-02	4