DisGeNET - a database of gene-disease associations

List of associated variants

Endometrial Carcinoma, C0476089

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
rs1182154114	SULT1A1	0.925	0.080	16	28623160	missense variant	G/C	snv			2
rs1337082	LOC105373241	0.925	0.080	X	67764173	intergenic variant	G/A	snv		0.61	2
rs140296720	DDR1	0.925	0.080	6	30896816	missense variant	G/A	snv	4.3E-06		2
rs1438956733	FGFR2	0.925	0.080	10	121515180	synonymous variant	G/A	snv		7.0E-06	2
rs1740828		0.925	0.080	6	21648854	regulatory region variant	G/A	snv		0.55	2
rs201768983	TNK2	0.925	0.080	3	195868640	missense variant	C/T	snv	1.2E-04	3.5E-05	2
rs2218868	OR9Q1	0.925	0.080	11	58158505	intron variant	C/T	snv		0.52	2
rs2278868	SKAP1	0.925	0.080	17	48184809	missense variant	C/T	snv	4.0E-06; 0.63	0.55	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
rs2414098	CYP19A1 ; MIR4713HG	1.000	0.080	15	51245609	intron variant	T/C	snv		0.65	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
rs2517951	ERBB2	0.925	0.080	17	39696844	intron variant	C/T	snv		0.52	2
rs2676530	LOC108783654 ; HSD17B1	0.925	0.080	17	42553937	non coding transcript exon variant	C/A;G;T	snv	0.25		2
rs2677764	PIK3CA	0.925	0.080	3	179206019	intron variant	C/A;T	snv			2
rs2960422	PPARG	1.000	0.080	3	12293492	intron variant	G/A	snv		0.59	2
rs3731127	XPC	0.925	0.080	3	14158973	intron variant	G/A	snv		4.0E-02	2
rs3741211	INS-IGF2 ; IGF2 ; IGF2-AS	0.925	0.080	11	2147880	non coding transcript exon variant	A/G	snv		0.36	2
rs3759216	CDKN1B ; GPR19	0.925	0.080	12	12715152	intron variant	G/A	snv		0.38	2
rs3768235	BCL10	0.925	0.080	1	85267691	missense variant	C/T	snv	8.0E-06; 6.5E-02	4.5E-02	2
rs471767	PGR	0.925	0.080	11	101034566	3 prime UTR variant	G/A;C	snv			2
rs4721745	TWIST1	0.925	0.080	7	19113889	3 prime UTR variant	C/G	snv		0.18	2
rs4783689	CDH1	0.925	0.080	16	68819768	intron variant	C/T	snv		0.30	2
rs4987886	ATM	0.925	0.080	11	108225326	5 prime UTR variant	A/T	snv		3.0E-02	2