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
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
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
rs10850382	LOC107984437	1.000	0.080	12	114776743	downstream gene variant	C/T	snv		0.26	1
rs142459060	EXT1	1.000	0.080	8	117816659	intron variant	T/C	snv		2.3E-02	1
rs2274976	MTHFR	0.807	0.320	1	11790870	missense variant	C/T	snv	5.6E-02	4.2E-02	7
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1045242	TNFAIP8	0.925	0.080	5	119393632	3 prime UTR variant	A/G	snv		0.32	3
rs11064	TNFAIP8	0.807	0.120	5	119393693	3 prime UTR variant	A/G	snv		0.27	9
rs1057519854	FGFR2	0.882	0.080	10	121488063	missense variant	A/T	snv			7
rs121913476	FGFR2	0.851	0.080	10	121498520	missense variant	A/C;T	snv			7
rs1438956733	FGFR2	0.925	0.080	10	121515180	synonymous variant	G/A	snv		7.0E-06	2
rs121913478	FGFR2	0.708	0.640	10	121515280	missense variant	T/C	snv			17
rs55745510	FGFR2	0.925	0.080	10	121520039	synonymous variant	G/A	snv	7.6E-05	2.1E-05	2
rs121918497	FGFR2	0.776	0.160	10	121520052	missense variant	T/G	snv			8
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		41
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			17
rs2960422	PPARG	1.000	0.080	3	12293492	intron variant	G/A	snv		0.59	2
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs2479106	DENND1A	0.851	0.120	9	123762933	intron variant	A/G	snv		0.44	4
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs2747716	LINC02523 ; LOC105377986	1.000	0.080	6	125687226	intron variant	A/G;T	snv			1
rs2797160	LINC02523 ; LOC105377986	1.000	0.080	6	125688970	intron variant	A/G	snv		0.48	1