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
rs11224561	PGR	0.925	0.080	11	101034325	3 prime UTR variant	C/A;T	snv			2
rs471767	PGR	0.925	0.080	11	101034566	3 prime UTR variant	G/A;C	snv			2
rs1042838	PGR	0.742	0.240	11	101062681	missense variant	C/A;G	snv	0.13; 4.0E-06		12
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs10895068	PGR ; PGR-AS1	0.752	0.240	11	101129483	5 prime UTR variant	C/T	snv		3.6E-02	14
rs4851527	IL1R2	0.790	0.160	2	102005914	intron variant	A/G	snv		0.63	7
rs3218896	IL1R2	0.807	0.160	2	102015190	intron variant	T/C;G	snv			6
rs2072472	IL1R2	0.732	0.200	2	102026557	intron variant	A/G	snv		0.24	13
rs2475335	PTPRD	0.882	0.080	9	10260263	intron variant	C/A;T	snv			3
rs743572	CYP17A1	0.672	0.360	10	102837395	5 prime UTR variant	A/G;T	snv	0.40; 8.1E-06		24
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs2498801	LOC102723342 ; AKT1	0.790	0.120	14	104769221	upstream gene variant	T/C	snv		0.41	7
rs1200003171	AKT1	0.882	0.120	14	104775122	missense variant	C/A;T	snv	8.0E-06		4
rs2494737	AKT1	0.925	0.080	14	104779988	intron variant	T/A	snv		0.40	2
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs74090038	AKT1	0.925	0.080	14	104796444	upstream gene variant	C/T	snv		0.29	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
rs1048290	KEAP1	0.851	0.160	19	10489766	synonymous variant	G/C	snv	0.41	0.48	4
rs7679673		0.677	0.440	4	105140377	intron variant	C/A	snv		0.50	28
rs4987886	ATM	0.925	0.080	11	108225326	5 prime UTR variant	A/T	snv		3.0E-02	2
rs1805097	IRS2	0.689	0.360	13	109782884	missense variant	C/G;T	snv	0.35		22
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs757511141	DDX54 ; RITA1	0.925	0.080	12	113186886	missense variant	C/G	snv	8.0E-06	2.1E-05	2