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
rs12185157	CDH1	0.882	0.120	16	68750684	intron variant	G/A;C;T	snv			3
rs17715799	CDH1	0.882	0.120	16	68796608	intron variant	A/G;T	snv			3
rs3737559	BRCA1	0.882	0.120	17	43082287	intron variant	C/T	snv		6.9E-02	3
rs112843513	TOPBP1	0.851	0.120	3	133600730	3 prime UTR variant	G/-	del			4
rs13689	CDH1	0.851	0.120	16	68834619	3 prime UTR variant	T/A;C;G	snv			4
rs28566535	CYP19A1	0.851	0.120	15	51308944	intron variant	A/C;G;T	snv			4
rs864622149	CHEK2	0.851	0.160	22	28710005	splice donor variant	C/A;G;T	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
rs80359306	BRCA2	0.827	0.280	13	32333284	frameshift variant	A/-;AA	delins			6
rs3020314	ESR1	0.790	0.280	6	151949537	intron variant	C/G;T	snv			7
rs4775936	MIR4713HG ; CYP19A1	0.790	0.200	15	51243825	intron variant	C/T	snv		0.36	7
rs763193414	ERBB2	0.827	0.160	17	39707034	missense variant	G/A	snv	3.7E-05	4.9E-05	7
rs1214285376	XRCC1	0.776	0.200	19	43543490	missense variant	G/T	snv	4.0E-06		8
rs1799814	CYP1A1	0.807	0.160	15	74720646	missense variant	G/A;T	snv	1.6E-05; 3.1E-02		8
rs1801321	RAD51 ; RAD51-AS1	0.790	0.160	15	40695367	5 prime UTR variant	G/C;T	snv		0.35	8
rs6443624	PIK3CA	0.776	0.200	3	179179886	intron variant	C/A	snv		0.30	8
rs115160714	TOPBP1	0.807	0.200	3	133601021	3 prime UTR variant	G/A	snv		5.8E-03	9
rs137853007	CHEK2	0.790	0.240	22	28725254	missense variant	G/A;T	snv	5.2E-05		9
rs3020449	ESR2	0.807	0.200	14	64306674	intron variant	A/G;T	snv			10
rs2699887	PIK3CA ; LOC101928739	0.763	0.280	3	179148620	intron variant	C/T	snv		0.18	11
rs700519	MIR4713HG ; CYP19A1	0.752	0.280	15	51215771	missense variant	G/A	snv	7.6E-02	8.0E-02	11
rs1042838	PGR	0.742	0.240	11	101062681	missense variant	C/A;G	snv	0.13; 4.0E-06		12
rs16949649	NME1 ; NME1-NME2	0.776	0.200	17	51152947	upstream gene variant	T/C	snv		0.39	12
rs10895068	PGR ; PGR-AS1	0.752	0.240	11	101129483	5 prime UTR variant	C/T	snv		3.6E-02	14