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
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	65
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs1200003171	AKT1	0.882	0.120	14	104775122	missense variant	C/A;T	snv	8.0E-06		4
rs2494737	AKT1	0.925	0.080	14	104779988	intron variant	T/A	snv		0.40	2
rs2494750	AKT1	0.925	0.080	14	104796575	upstream gene variant	G/C	snv		0.86	2
rs72715985	AKT1	0.925	0.080	14	104797210	upstream gene variant	C/T	snv		2.6E-02	2
rs74090038	AKT1	0.925	0.080	14	104796444	upstream gene variant	C/T	snv		0.29	2
rs2498796	AKT1	1.000	0.080	14	104776883	non coding transcript exon variant	G/A	snv		0.33	1
rs892119	AKT2 ; LOC107985289	0.925	0.080	19	40254165	intron variant	C/T	snv		0.19	2
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs11542041	APOE	0.677	0.480	19	44908690	missense variant	C/A;T	snv		2.1E-05	23
rs6152	AR	0.763	0.240	X	67545785	synonymous variant	G/A	snv	0.15	0.28	9
rs1204038	AR	0.882	0.160	X	67568383	intron variant	G/A	snv		0.36	3
rs4987886	ATM	0.925	0.080	11	108225326	5 prime UTR variant	A/T	snv		3.0E-02	2
rs911162	AURKA ; CSTF1	1.000	0.080	20	56391393	intron variant	A/C;G	snv			1
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs3768235	BCL10	0.925	0.080	1	85267691	missense variant	C/T	snv	8.0E-06; 6.5E-02	4.5E-02	2
rs7579014	BCL11A	1.000	0.080	2	60480759	intron variant	G/A	snv		0.55	2
rs9904341	BIRC5	0.695	0.280	17	78214286	5 prime UTR variant	G/A;C;T	snv	0.38; 4.8E-06		20
rs60856912	BPTF	1.000	0.080	17	67896227	intron variant	G/T	snv		0.32	1
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
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
rs80357929	BRCA1	0.851	0.200	17	43092663	frameshift variant	A/-	del			4