DisGeNET - a database of gene-disease associations

List of associated variants

OAT syndrome, C4324573

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
rs370116569	DSE ; TSPYL1	0.925	0.040	6	116279412	missense variant	G/C	snv	3.2E-05	2.1E-05	2
rs140756663	TSPYL1 ; DSE	0.925	0.040	6	116278733	missense variant	G/T	snv	3.6E-03	2.7E-03	2