DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of endometrium, C0007103

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
rs11196418	CASP7	0.925	0.080	10	113678707	upstream gene variant	G/A	snv		0.11	4
rs11196445	CASP7	0.925	0.080	10	113710131	intron variant	G/A	snv		0.11	2
rs2274976	MTHFR	0.807	0.320	1	11790870	missense variant	C/T	snv	5.6E-02	4.2E-02	7
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1045242	TNFAIP8	0.925	0.080	5	119393632	3 prime UTR variant	A/G	snv		0.32	3
rs11064	TNFAIP8	0.807	0.120	5	119393693	3 prime UTR variant	A/G	snv		0.27	9
rs1438956733	FGFR2	0.925	0.080	10	121515180	synonymous variant	G/A	snv		7.0E-06	2
rs55745510	FGFR2	0.925	0.080	10	121520039	synonymous variant	G/A	snv	7.6E-05	2.1E-05	2
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
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs3759216	CDKN1B ; GPR19	0.925	0.080	12	12715152	intron variant	G/A	snv		0.38	2
rs34330	CDKN1B ; GPR19	0.724	0.280	12	12717761	5 prime UTR variant	T/C	snv		0.70	15
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs2308321	MGMT	0.653	0.480	10	129766800	missense variant	A/G	snv	9.3E-02	8.7E-02	29
rs483352909	POLE	0.752	0.160	12	132673664	missense variant	G/A;C	snv	1.6E-05		11
rs112843513	TOPBP1	0.851	0.120	3	133600730	3 prime UTR variant	G/-	del			4
rs115160714	TOPBP1	0.807	0.200	3	133601021	3 prime UTR variant	G/A	snv		5.8E-03	9
rs759843019	ERCC4	0.807	0.240	16	13920188	missense variant	G/A	snv	8.2E-06	7.0E-06	6
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs3731127	XPC	0.925	0.080	3	14158973	intron variant	G/A	snv		4.0E-02	2