DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of esophagus, C0546837

Disease: Esophageal Neoplasms

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
rs3181052	IL1RN	0.851	0.120	2	113128472	intron variant	G/A	snv		0.16	5
rs3738894	PRKCE	0.882	0.080	2	46187030	3 prime UTR variant	G/A	snv		1.1E-02	4
rs452204	IL1RN	0.807	0.200	2	113131484	intron variant	G/A	snv		0.45	7
rs6720283	COL6A3	0.882	0.120	2	237401239	intron variant	G/A	snv		0.31	4
rs7436	COL6A3	0.925	0.080	2	237324168	3 prime UTR variant	T/A	snv		0.10	3
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs2243115	IL12A-AS1 ; IL12A	0.776	0.320	3	159988493	intron variant	T/G	snv		0.10	12
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs568408	IL12A ; IL12A-AS1	0.649	0.600	3	159995680	3 prime UTR variant	G/A	snv		0.16	29
rs6772209		1.000	0.080	3	175929377	intergenic variant	G/A	snv		4.1E-02	2
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
rs767551092	XPC	0.790	0.200	3	14164838	missense variant	G/A	snv	4.0E-06		10
rs9841504	ZBTB20	0.827	0.120	3	114643917	intron variant	C/G;T	snv			7
rs9868873	SEMA5B	1.000	0.080	3	123012063	intron variant	G/A	snv		0.28	2
rs1014867	FAT4	0.925	0.080	4	125491736	missense variant	C/T	snv	4.9E-02	4.9E-02	3
rs1039808	FAT4	0.925	0.080	4	125318831	missense variant	C/G;T	snv	4.0E-06; 0.41		3
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
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
rs2320615	NAF1	0.925	0.080	4	163148797	intron variant	A/G	snv		0.78	3
rs353163	UBA6-AS1 ; TMPRSS11A	0.882	0.080	4	67919056	missense variant	T/A;C;G	snv	0.67		4
rs698	ADH1C ; ADH1B	0.724	0.240	4	99339632	missense variant	T/A;C	snv	0.35		20
rs753225272	FAT4	0.925	0.080	4	125491730	missense variant	C/G;T	snv	8.0E-06; 4.0E-06		3
rs989902	PTPN13	0.742	0.240	4	86785353	missense variant	T/G	snv	0.42	0.53	12