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
rs10835920		1.000	0.080	11	32468118	intergenic variant	C/T	snv		0.50	1
rs10850382	LOC107984437	1.000	0.080	12	114776743	downstream gene variant	C/T	snv		0.26	1
rs10895068	PGR ; PGR-AS1	0.752	0.240	11	101129483	5 prime UTR variant	C/T	snv		3.6E-02	14
rs10908278	HNF1B	0.925	0.160	17	37739961	intron variant	A/C;T	snv			2
rs11064	TNFAIP8	0.807	0.120	5	119393693	3 prime UTR variant	A/G	snv		0.27	9
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
rs11224561	PGR	0.925	0.080	11	101034325	3 prime UTR variant	C/A;T	snv			2
rs11263761	HNF1B	1.000	0.080	17	37737784	intron variant	A/G	snv		0.44	2
rs11263763	HNF1B	0.882	0.200	17	37743574	intron variant	A/G	snv		0.43	6
rs112843513	TOPBP1	0.851	0.120	3	133600730	3 prime UTR variant	G/-	del			4
rs1129506	EVI2A ; NF1	1.000	0.080	17	31319014	missense variant	G/A;C	snv	0.59; 6.0E-05		1
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1130864	CRP	0.672	0.520	1	159713301	3 prime UTR variant	G/A	snv		0.26	27
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs113998067		1.000	0.080	1	37607755	downstream gene variant	T/C	snv		3.3E-02	1
rs115160714	TOPBP1	0.807	0.200	3	133601021	3 prime UTR variant	G/A	snv		5.8E-03	9
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs11542041	APOE	0.677	0.480	19	44908690	missense variant	C/A;T	snv		2.1E-05	23
rs1156807933	MAX ; LOC100506321	0.925	0.080	14	65093799	missense variant	T/C	snv	4.0E-06		3
rs1156920296	LOC108783645 ; HFE	0.925	0.080	6	26092918	missense variant	G/A	snv			2
rs11583244		1.000	0.080	1	225764772	regulatory region variant	C/T	snv		0.35	1
rs11651052	HNF1B	0.851	0.200	17	37742390	intron variant	G/A	snv		0.50	7
rs11651755	HNF1B	0.763	0.160	17	37739849	intron variant	T/C	snv		0.52	9