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
rs11224561	PGR	0.925	0.080	11	101034325	3 prime UTR variant	C/A;T	snv			2
rs1130864	CRP	0.672	0.520	1	159713301	3 prime UTR variant	G/A	snv		0.26	27
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
rs1156807933	MAX ; LOC100506321	0.925	0.080	14	65093799	missense variant	T/C	snv	4.0E-06		3
rs117039649	MDM2	0.925	0.080	12	68808776	intron variant	G/C	snv		2.3E-02	4
rs1182154114	SULT1A1	0.925	0.080	16	28623160	missense variant	G/C	snv			2
rs1200003171	AKT1	0.882	0.120	14	104775122	missense variant	C/A;T	snv	8.0E-06		4
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
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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121918497	FGFR2	0.776	0.160	10	121520052	missense variant	T/G	snv			8
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			17
rs1233753551	CYP1B1 ; CYP1B1-AS1	0.851	0.160	2	38074751	missense variant	C/T	snv		7.0E-06	4
rs1255998	ESR2	0.827	0.200	14	64227153	3 prime UTR variant	G/C;T	snv			6
rs1256049	ESR2	0.645	0.560	14	64257333	synonymous variant	C/T	snv	6.7E-02	6.3E-02	32
rs1271572	ESR2	0.708	0.400	14	64295199	intron variant	A/C;T	snv			16
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs12934561	IL32	0.882	0.080	16	3068864	intron variant	T/C	snv		0.57	3
rs12970291		0.763	0.120	18	75305279	intergenic variant	G/A	snv		2.8E-02	12
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1337082	LOC105373241	0.925	0.080	X	67764173	intergenic variant	G/A	snv		0.61	2