DisGeNET - a database of gene-disease associations

List of associated variants

L-2-HYDROXYGLUTARIC ACIDURIA, C1855995

Source: BEFREE ×

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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
rs63750311	PSEN1	0.790	0.240	14	73192647	missense variant	A/C	snv			7
rs887386390	L2HGDH	0.925	0.120	14	50283990	missense variant	T/C	snv			2
rs970541687	L2HGDH	0.925	0.120	14	50302917	missense variant	T/C	snv			2