DisGeNET - a database of gene-disease associations

List of associated variants

Lesch-Nyhan Syndrome, Neurologic Variant, C1845892

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
rs387906725	HPRT1	0.882	0.160	X	134475189	missense variant	G/A	snv			3
rs137852495	HPRT1	0.925	0.120	X	134475216	missense variant	T/C	snv			2