DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of endometrium, C0007103

Disease: Endometrial Carcinoma

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
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs80357115	BRCA1	0.790	0.200	17	43092597	stop gained	A/C;T	snv			8
rs11196418	CASP7	0.925	0.080	10	113678707	upstream gene variant	G/A	snv		0.11	4
rs11196445	CASP7	0.925	0.080	10	113710131	intron variant	G/A	snv		0.11	2
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs1451539938	CD82	0.925	0.080	11	44618361	missense variant	A/G	snv	4.1E-06	7.0E-06	3
rs1059234	CDKN1A	0.790	0.120	6	36685820	3 prime UTR variant	C/T	snv	0.15	0.13	10
rs34330	CDKN1B ; GPR19	0.724	0.280	12	12717761	5 prime UTR variant	T/C	snv		0.70	15
rs3759216	CDKN1B ; GPR19	0.925	0.080	12	12715152	intron variant	G/A	snv		0.38	2
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs8135424	CHEK2	0.925	0.080	22	28689804	intron variant	G/A	snv		0.14	4
rs4633	COMT ; MIR4761	0.695	0.400	22	19962712	synonymous variant	C/T	snv	0.46	0.45	25
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs4818	COMT ; MIR4761	0.683	0.440	22	19963684	synonymous variant	C/G;T	snv	0.34		27
rs1130864	CRP	0.672	0.520	1	159713301	3 prime UTR variant	G/A	snv		0.26	27
rs743572	CYP17A1	0.672	0.360	10	102837395	5 prime UTR variant	A/G;T	snv	0.40; 8.1E-06		24
rs28566535	CYP19A1	0.851	0.120	15	51308944	intron variant	A/C;G;T	snv			4
rs752760	CYP19A1	0.925	0.080	15	51339282	upstream gene variant	C/T	snv		0.57	2
rs1065779	CYP19A1 ; MIR4713HG	0.882	0.120	15	51212614	intron variant	A/C;T	snv		0.43	3
rs749292	CYP19A1 ; MIR4713HG	0.851	0.160	15	51266534	intron variant	G/A	snv		0.44	4
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1799814	CYP1A1	0.807	0.160	15	74720646	missense variant	G/A;T	snv	1.6E-05; 3.1E-02		8
rs771432878	CYP1A1	0.925	0.080	15	74723013	missense variant	A/G	snv	4.0E-06	3.5E-05	2
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs1800440	CYP1B1	0.653	0.440	2	38070996	missense variant	T/C;G	snv	0.15; 4.0E-06		29