DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of endometrium, C0007103

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
rs749292	CYP19A1 ; MIR4713HG	0.851	0.160	15	51266534	intron variant	G/A	snv		0.44	4
rs1233753551	CYP1B1 ; CYP1B1-AS1	0.851	0.160	2	38074751	missense variant	C/T	snv		7.0E-06	4
rs997050266	ERCC1	0.851	0.120	19	45423352	missense variant	T/A;C	snv		1.4E-05	4
rs149308960	ESR1	0.925	0.080	6	151842622	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06; 1.6E-03		4
rs1048290	KEAP1	0.851	0.160	19	10489766	synonymous variant	G/C	snv	0.41	0.48	4
rs1694964	LINC02025	0.925	0.080	3	84885341	intron variant	G/T	snv			4
rs117039649	MDM2	0.925	0.080	12	68808776	intron variant	G/C	snv		2.3E-02	4
rs587781462	MSH6 ; FBXO11	0.882	0.200	2	47800283	missense variant	C/A;G;T	snv	1.6E-05		4
rs397517202	PIK3CA	0.851	0.320	3	179234230	missense variant	A/G	snv			4
rs10512263	TGFBR1	0.851	0.120	9	99123789	intron variant	T/C	snv		6.5E-02	4
rs6478974	TGFBR1	0.851	0.120	9	99112121	intron variant	A/G;T	snv			4
rs112843513	TOPBP1	0.851	0.120	3	133600730	3 prime UTR variant	G/-	del			4
rs1063539	ADIPOQ ; ADIPOQ-AS1	0.827	0.360	3	186857603	3 prime UTR variant	G/A;C	snv		0.10	5
rs944050	ESR2	0.827	0.280	14	64233327	splice region variant	T/C	snv	9.5E-02	7.9E-02	5
rs1870050	GLDN	0.827	0.160	15	51344354	intron variant	A/C	snv		6.0E-02	5
rs7312175	KRAS	0.827	0.120	12	25251670	upstream gene variant	G/A	snv		0.16	5
rs28930073	MLH1	0.827	0.200	3	37007004	missense variant	G/C	snv	2.1E-04	1.9E-04	5
rs397514632	POLD1	0.827	0.160	19	50406456	missense variant	G/A	snv			5
rs751295137	EGFR	0.851	0.160	7	55152582	missense variant	G/A	snv	8.0E-06	7.0E-06	6
rs760101437	EGFR	0.851	0.160	7	55154018	missense variant	G/A	snv	3.2E-05	1.4E-05	6
rs759843019	ERCC4	0.807	0.240	16	13920188	missense variant	G/A	snv	8.2E-06	7.0E-06	6
rs1255998	ESR2	0.827	0.200	14	64227153	3 prime UTR variant	G/C;T	snv			6
rs63750111	FBXO11 ; MSH6	0.882	0.200	2	47800914	stop gained	C/A;G	snv			6
rs3218896	IL1R2	0.807	0.160	2	102015190	intron variant	T/C;G	snv			6
rs1524107	IL6-AS1 ; IL6	0.827	0.320	7	22728600	non coding transcript exon variant	C/T	snv		9.4E-02	6