DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, Endometrioid, C0206687

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs1057519945	POLE	0.776	0.200	12	132673703	missense variant	C/A;T	snv			12
rs1057519943	POLE	0.790	0.160	12	132676598	missense variant	G/C;T	snv			10
rs2476491	IL2RA	0.776	0.240	10	6053447	intron variant	A/T	snv		0.25	8
rs13405728	STON1-GTF2A1L ; LHCGR	0.790	0.200	2	48751020	intron variant	A/G	snv		0.15	8
rs2479106	DENND1A	0.851	0.120	9	123762933	intron variant	A/G	snv		0.44	4
rs10795763	IL2RA	0.925	0.120	10	6054236	intron variant	G/T	snv		0.45	2
rs11256497	IL2RA	0.925	0.120	10	6045831	intron variant	G/A	snv		0.28	2
rs791587	IL2RA	0.925	0.120	10	6046736	intron variant	A/G	snv		0.51	2