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
rs63750741	FBXO11 ; MSH6	0.827	0.200	2	47799329	missense variant	T/C	snv	1.2E-05		8
rs2020912	MSH6 ; FBXO11	0.807	0.480	2	47800616	missense variant	T/C;G	snv	5.1E-03		7
rs4851527	IL1R2	0.790	0.160	2	102005914	intron variant	A/G	snv		0.63	7
rs63749843	MSH6 ; FBXO11	0.827	0.240	2	47803449	stop gained	C/A;G;T	snv			7
rs786201042	MSH6	0.827	0.240	2	47783243	stop gained	C/G;T	snv	2.5E-05		7
rs13429458	THADA	0.827	0.200	2	43411699	intron variant	A/C	snv		0.14	6
rs3218896	IL1R2	0.807	0.160	2	102015190	intron variant	T/C;G	snv			6
rs63749999	FBXO11 ; MSH6	0.851	0.240	2	47801086	stop gained	C/T	snv	1.2E-05		6
rs63750111	FBXO11 ; MSH6	0.882	0.200	2	47800914	stop gained	C/A;G	snv			6
rs63751017	FBXO11 ; MSH6	0.851	0.240	2	47800714	stop gained	C/A;T	snv		1.4E-05	6
rs267608059	MSH6 ; FBXO11	0.882	0.240	2	47801050	stop gained	G/T	snv			5
rs63750086	MSH2	0.882	0.200	2	47429891	frameshift variant	AG/-	del			5
rs876660943	FBXO11 ; MSH6	0.882	0.240	2	47806359	splice donor variant	G/T	snv		7.0E-06	5
rs1233753551	CYP1B1 ; CYP1B1-AS1	0.851	0.160	2	38074751	missense variant	C/T	snv		7.0E-06	4
rs587781462	MSH6 ; FBXO11	0.882	0.200	2	47800283	missense variant	C/A;G;T	snv	1.6E-05		4
rs63750664	MSH6	0.882	0.200	2	47783292	missense variant	C/A;T	snv	4.1E-06; 9.4E-05		3
rs549467183	MSH2	0.925	0.080	2	47475228	missense variant	G/A	snv	1.3E-04	3.5E-05	2
rs63749889	MSH6 ; FBXO11	0.925	0.120	2	47800685	missense variant	G/A	snv	2.4E-05	7.0E-06	2
rs7579014	BCL11A	1.000	0.080	2	60480759	intron variant	G/A	snv		0.55	2
rs864622121	MSH2	1.000	0.080	2	47475228	frameshift variant	GT/-	del			2
rs148261157		1.000	0.080	2	60670444	intergenic variant	G/A	snv		3.9E-02	1
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101