DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of esophagus, C0546837

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
rs12231737	TRAFD1	0.925	0.120	12	112136812	intron variant	C/T	snv		5.9E-03	5
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
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs315919	IL1RN	0.851	0.120	2	113118636	intron variant	T/G	snv		0.55	5
rs3181052	IL1RN	0.851	0.120	2	113128472	intron variant	G/A	snv		0.16	5
rs452204	IL1RN	0.807	0.200	2	113131484	intron variant	G/A	snv		0.45	7
rs9841504	ZBTB20	0.827	0.120	3	114643917	intron variant	C/G;T	snv			7
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs9868873	SEMA5B	1.000	0.080	3	123012063	intron variant	G/A	snv		0.28	2
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs1039808	FAT4	0.925	0.080	4	125318831	missense variant	C/G;T	snv	4.0E-06; 0.41		3
rs12508222	FAT4	0.925	0.080	4	125449492	missense variant	G/A;T	snv	4.3E-02; 2.0E-05		3
rs1567047	FAT4	0.925	0.080	4	125451587	missense variant	G/A	snv	0.27	0.22	3
rs753225272	FAT4	0.925	0.080	4	125491730	missense variant	C/G;T	snv	8.0E-06; 4.0E-06		3
rs1014867	FAT4	0.925	0.080	4	125491736	missense variant	C/T	snv	4.9E-02	4.9E-02	3
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs2242652	TERT	0.724	0.400	5	1279913	intron variant	G/A	snv		0.18	16
rs61748181	TERT	0.827	0.120	5	1294051	missense variant	C/T	snv	2.2E-02	2.2E-02	10
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs2308321	MGMT	0.653	0.480	10	129766800	missense variant	A/G	snv	9.3E-02	8.7E-02	29