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
rs605965		0.925	0.080	6	75723198	downstream gene variant	T/A	snv		2.3E-02	2
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs16949649	NME1 ; NME1-NME2	0.776	0.200	17	51152947	upstream gene variant	T/C	snv		0.39	12
rs3219175	RETN	0.807	0.240	19	7668969	upstream gene variant	G/A	snv		5.0E-02	10
rs2498801	LOC102723342 ; AKT1	0.790	0.120	14	104769221	upstream gene variant	T/C	snv		0.41	7
rs28372698	IL32	0.807	0.200	16	3065110	upstream gene variant	T/A;C	snv			7
rs7312175	KRAS	0.827	0.120	12	25251670	upstream gene variant	G/A	snv		0.16	5
rs11196418	CASP7	0.925	0.080	10	113678707	upstream gene variant	G/A	snv		0.11	4
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
rs752760	CYP19A1	0.925	0.080	15	51339282	upstream gene variant	C/T	snv		0.57	2
rs944050	ESR2	0.827	0.280	14	64233327	splice region variant	T/C	snv	9.5E-02	7.9E-02	5
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv			55
rs1130864	CRP	0.672	0.520	1	159713301	3 prime UTR variant	G/A	snv		0.26	27
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs3742330	DICER1	0.662	0.640	14	95087025	3 prime UTR variant	A/G	snv		8.7E-02	24
rs4245739	MDM4	0.708	0.360	1	204549714	3 prime UTR variant	C/A;G	snv	0.77; 6.2E-06		21
rs10046	MIR4713HG ; CYP19A1	0.708	0.400	15	51210789	3 prime UTR variant	G/A	snv	0.45	0.43	18
rs1059234	CDKN1A	0.790	0.120	6	36685820	3 prime UTR variant	C/T	snv	0.15	0.13	10
rs11064	TNFAIP8	0.807	0.120	5	119393693	3 prime UTR variant	A/G	snv		0.27	9
rs115160714	TOPBP1	0.807	0.200	3	133601021	3 prime UTR variant	G/A	snv		5.8E-03	9
rs1255998	ESR2	0.827	0.200	14	64227153	3 prime UTR variant	G/C;T	snv			6