DisGeNET - a database of gene-disease associations

List of associated variants

Endometrial Carcinoma, C0476089

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
rs6064391	CSTF1	1.000	0.080	20	56396330	intron variant	G/T	snv		0.44	1
rs872267	EEFSEC	1.000	0.080	3	128169224	intron variant	G/A	snv		0.43	1
rs1129506	EVI2A ; NF1	1.000	0.080	17	31319014	missense variant	G/A;C	snv	0.59; 6.0E-05		1
rs142459060	EXT1	1.000	0.080	8	117816659	intron variant	T/C	snv		2.3E-02	1
rs117610694	FCHSD2	1.000	0.080	11	73070209	intron variant	C/T	snv		9.6E-03	1
rs11657964	HNF1B	1.000	0.080	17	37740776	intron variant	G/A	snv		0.42	1
rs4239217	HNF1B	1.000	0.080	17	37738996	intron variant	A/G	snv		0.35	1
rs757209	HNF1B	1.000	0.080	17	37742842	intron variant	A/G;T	snv			1
rs757211	HNF1B	1.000	0.080	17	37736488	intron variant	T/C	snv		0.65	1
rs17232730	LINC00824	1.000	0.080	8	128525500	intron variant	G/C	snv		9.8E-02	1
rs35286446	LINC00824	1.000	0.080	8	128433618	intron variant	TATATA/-;TATA;TATATATA;TATATATATA	delins			1
rs12184995	LINC02331 ; LOC105370504	1.000	0.080	14	53759970	intron variant	A/G	snv		0.83	1
rs145505949	LINC02451	1.000	0.080	12	42656220	intron variant	C/T	snv		9.3E-02	1
rs2747716	LINC02523 ; LOC105377986	1.000	0.080	6	125687226	intron variant	A/G;T	snv			1
rs2797160	LINC02523 ; LOC105377986	1.000	0.080	6	125688970	intron variant	A/G	snv		0.48	1
rs6149499	LOC101929006 ; LOC105375005	1.000	0.080	6	29288284	intron variant	AT/-;ATAT;ATATAT;ATATATCATGTATATATATATATAT;ATATCATGTATATATATATATAT	delins			1
rs9668337	LOC105369704 ; LOC105369705 ; SSPN	1.000	0.080	12	26273405	non coding transcript exon variant	G/A	snv		0.55	1
rs561726060	LOC105372018	1.000	0.080	18	22263993	regulatory region variant	C/T	snv		4.4E-03	1
rs4607001	LOC105372563 ; LOC105372562	1.000	0.080	20	22467899	intron variant	C/T	snv		0.22	1
rs13328298	LOC105377986 ; LINC02523	1.000	0.080	6	125695434	intron variant	G/A;C	snv			1
rs10850382	LOC107984437	1.000	0.080	12	114776743	downstream gene variant	C/T	snv		0.26	1
rs1677893	NAV3	1.000	0.080	12	77944606	intron variant	A/T	snv		0.48	1
rs529138199	NCAM2	1.000	0.080	21	21005810	intron variant	C/A;G	snv			1
rs1553826166	PIK3CA	1.000	0.080	3	179234231	missense variant	C/G	snv			1
rs819913	PLPPR4	1.000	0.080	1	99299799	intron variant	T/A;C	snv			1