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
rs55745510	FGFR2	0.925	0.080	10	121520039	synonymous variant	G/A	snv	7.6E-05	2.1E-05	2
rs605965		0.925	0.080	6	75723198	downstream gene variant	T/A	snv		2.3E-02	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
rs752760	CYP19A1	0.925	0.080	15	51339282	upstream gene variant	C/T	snv		0.57	2
rs757511141	DDX54 ; RITA1	0.925	0.080	12	113186886	missense variant	C/G	snv	8.0E-06	2.1E-05	2
rs758188449	SHBG	0.925	0.080	17	7632936	missense variant	G/A;T	snv	6.8E-05; 4.0E-06		2
rs771432878	CYP1A1	0.925	0.080	15	74723013	missense variant	A/G	snv	4.0E-06	3.5E-05	2
rs79575945	ESR1	0.925	0.080	6	151837712	intron variant	A/G	snv		7.9E-02	2
rs892119	AKT2 ; LOC107985289	0.925	0.080	19	40254165	intron variant	C/T	snv		0.19	2
rs9838411	PIK3CA	0.925	0.080	3	179169899	intron variant	G/A	snv		0.25	2
rs1045242	TNFAIP8	0.925	0.080	5	119393632	3 prime UTR variant	A/G	snv		0.32	3
rs1065779	CYP19A1 ; MIR4713HG	0.882	0.120	15	51212614	intron variant	A/C;T	snv		0.43	3
rs1156807933	MAX ; LOC100506321	0.925	0.080	14	65093799	missense variant	T/C	snv	4.0E-06		3
rs1204038	AR	0.882	0.160	X	67568383	intron variant	G/A	snv		0.36	3
rs12112075	OGDH	0.925	0.080	7	44609201	intron variant	G/A	snv		1.8E-02	3
rs12934561	IL32	0.882	0.080	16	3068864	intron variant	T/C	snv		0.57	3
rs1451539938	CD82	0.925	0.080	11	44618361	missense variant	A/G	snv	4.1E-06	7.0E-06	3
rs2453839	IGFBP3	0.925	0.080	7	45913974	intron variant	T/C	snv		0.26	3
rs2475335	PTPRD	0.882	0.080	9	10260263	intron variant	C/A;T	snv			3
rs4980524	STIP1	0.882	0.080	11	64191787	intron variant	A/C;T	snv			3
rs1048290	KEAP1	0.851	0.160	19	10489766	synonymous variant	G/C	snv	0.41	0.48	4
rs10512263	TGFBR1	0.851	0.120	9	99123789	intron variant	T/C	snv		6.5E-02	4
rs11196418	CASP7	0.925	0.080	10	113678707	upstream gene variant	G/A	snv		0.11	4
rs112843513	TOPBP1	0.851	0.120	3	133600730	3 prime UTR variant	G/-	del			4