DisGeNET - a database of gene-disease associations

List of associated variants

Lafora Disease, C0751783

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
rs387907571	DNAJC13	0.827	0.080	3	132477995	missense variant	A/G	snv	4.2E-06	3.5E-05	6
rs587776554	EPM2A	1.000	0.080	6	145627458	frameshift variant	-/A	delins			1
rs796052428	EPM2A	1.000	0.080	6	145627510	missense variant	G/A	snv	8.0E-06	7.0E-06	1
rs796052427	EPM2A	1.000	0.080	6	145627534	missense variant	T/A	snv			1
rs137852917	EPM2A	1.000	0.080	6	145627577	missense variant	C/A;T	snv	8.0E-06; 1.2E-05		1
rs201053542	EPM2A	1.000	0.080	6	145627618	missense variant	T/C	snv	4.0E-06		1
rs104893950	EPM2A	0.925	0.080	6	145627691	stop gained	G/A;C	snv	7.7E-05		2
rs375544596	EPM2A	1.000	0.080	6	145635382	missense variant	G/A	snv			1
rs137852916	EPM2A	1.000	0.080	6	145635451	missense variant	C/T	snv	2.0E-05	1.4E-05	1
rs587776553	EPM2A	1.000	0.080	6	145686262	stop gained	-/T	delins			1
rs137852915	EPM2A	1.000	0.080	6	145686276	missense variant	G/A	snv	2.4E-05	7.0E-06	1
rs1034706422	LOC100507557 ; EPM2A	1.000	0.080	6	145735235	missense variant	G/A;T	snv	6.0E-06		1
rs1362231306	EPM2A ; LOC100507557	1.000	0.080	6	145735247	missense variant	G/A;C	snv	6.2E-06		1
rs104893955	EPM2A ; LOC100507557	1.000	0.080	6	145735405	missense variant	A/C;T	snv			1
rs77369218	GBA	0.807	0.160	1	155235726	missense variant	T/A	snv			7
rs147028059	PRKN	1.000	0.080	6	161785807	missense variant	T/C;G	snv	4.0E-06; 1.6E-05		2
rs137852859	NHLRC1	0.925	0.080	6	18121684	missense variant	T/G	snv			2
rs757858146	NHLRC1	1.000	0.080	6	18121702	missense variant	T/G	snv			1
rs879745047	NHLRC1	1.000	0.080	6	18121825	missense variant	A/G	snv	4.0E-06	1.4E-05	1
rs121917876	NHLRC1	0.925	0.080	6	18122014	missense variant	A/T	snv			2
rs587776542	NHLRC1	0.925	0.080	6	18122138	frameshift variant	CT/-	del		4.9E-05	2
rs769301934	NHLRC1	1.000	0.080	6	18122171	missense variant	C/T	snv	3.6E-05	2.8E-05	1
rs750465793	NHLRC1	1.000	0.080	6	18122221	missense variant	G/T	snv	8.2E-06	1.4E-05	2
rs950907157	NHLRC1	1.000	0.080	6	18122230	missense variant	A/G	snv		7.0E-06	1
rs28940576	NHLRC1	0.925	0.080	6	18122402	missense variant	G/C	snv	1.1E-04	8.4E-05	2