DisGeNET - a database of gene-disease associations

List of associated variants

GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA, C4017305

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
rs121965059	OAT	0.925	0.080	10	124403892	missense variant	G/A	snv	1.6E-05	7.0E-06	4
rs121965047	OAT	0.925	0.080	10	124401746	missense variant	C/T	snv	4.0E-06		3