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
rs796052427	EPM2A	1.000	0.080	6	145627534	missense variant	T/A	snv			1
rs796052428	EPM2A	1.000	0.080	6	145627510	missense variant	G/A	snv	8.0E-06	7.0E-06	1
rs879745047	NHLRC1	1.000	0.080	6	18121825	missense variant	A/G	snv	4.0E-06	1.4E-05	1
rs950907157	NHLRC1	1.000	0.080	6	18122230	missense variant	A/G	snv		7.0E-06	1
rs587776553	EPM2A	1.000	0.080	6	145686262	stop gained	-/T	delins			1
rs587776554	EPM2A	1.000	0.080	6	145627458	frameshift variant	-/A	delins			1
rs587776542	NHLRC1	0.925	0.080	6	18122138	frameshift variant	CT/-	del		4.9E-05	2