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
rs1740828		0.925	0.080	6	21648854	regulatory region variant	G/A	snv		0.55	2
rs605965		0.925	0.080	6	75723198	downstream gene variant	T/A	snv		2.3E-02	2
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
rs892119	AKT2 ; LOC107985289	0.925	0.080	19	40254165	intron variant	C/T	snv		0.19	2
rs4987886	ATM	0.925	0.080	11	108225326	5 prime UTR variant	A/T	snv		3.0E-02	2
rs3768235	BCL10	0.925	0.080	1	85267691	missense variant	C/T	snv	8.0E-06; 6.5E-02	4.5E-02	2
rs11196445	CASP7	0.925	0.080	10	113710131	intron variant	G/A	snv		0.11	2
rs3759216	CDKN1B ; GPR19	0.925	0.080	12	12715152	intron variant	G/A	snv		0.38	2
rs752760	CYP19A1	0.925	0.080	15	51339282	upstream gene variant	C/T	snv		0.57	2
rs771432878	CYP1A1	0.925	0.080	15	74723013	missense variant	A/G	snv	4.0E-06	3.5E-05	2
rs140296720	DDR1	0.925	0.080	6	30896816	missense variant	G/A	snv	4.3E-06		2
rs757511141	DDX54 ; RITA1	0.925	0.080	12	113186886	missense variant	C/G	snv	8.0E-06	2.1E-05	2
rs10502289	ENOSF1	0.925	0.080	18	676789	intron variant	A/T	snv		0.15	2
rs2298581	ENOSF1	0.925	0.080	18	677931	intron variant	C/G	snv		0.22	2
rs2298583	ENOSF1	0.925	0.080	18	677302	intron variant	G/A	snv	0.34	0.34	2
rs2517951	ERBB2	0.925	0.080	17	39696844	intron variant	C/T	snv		0.52	2
rs79575945	ESR1	0.925	0.080	6	151837712	intron variant	A/G	snv		7.9E-02	2
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
rs3741211	INS-IGF2 ; IGF2 ; IGF2-AS	0.925	0.080	11	2147880	non coding transcript exon variant	A/G	snv		0.36	2
rs1337082	LOC105373241	0.925	0.080	X	67764173	intergenic variant	G/A	snv		0.61	2
rs2676530	LOC108783654 ; HSD17B1	0.925	0.080	17	42553937	non coding transcript exon variant	C/A;G;T	snv	0.25		2