DisGeNET - a database of gene-disease associations

List of shared variants

Breast Carcinoma, C0678222

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
rs10012	CYP1B1 ; CYP1B1-AS1	0.716	0.280	2	38075247	missense variant	G/C	snv	0.31	0.36	16
rs10046	MIR4713HG ; CYP19A1	0.708	0.400	15	51210789	3 prime UTR variant	G/A	snv	0.45	0.43	18
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1042838	PGR	0.742	0.240	11	101062681	missense variant	C/A;G	snv	0.13; 4.0E-06		12
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1056827	CYP1B1 ; CYP1B1-AS1	0.683	0.400	2	38075034	missense variant	C/A	snv	0.32	0.35	24
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv			23
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	27
rs10895068	PGR ; PGR-AS1	0.752	0.240	11	101129483	5 prime UTR variant	C/T	snv		3.6E-02	14
rs112843513	TOPBP1	0.851	0.120	3	133600730	3 prime UTR variant	G/-	del			4
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs115160714	TOPBP1	0.807	0.200	3	133601021	3 prime UTR variant	G/A	snv		5.8E-03	9
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs1214285376	XRCC1	0.776	0.200	19	43543490	missense variant	G/T	snv	4.0E-06		8
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs12185157	CDH1	0.882	0.120	16	68750684	intron variant	G/A;C;T	snv			3
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480