DisGeNET - a database of gene-disease associations

List of shared variants

Stuttering, Developmental, C0751529

Disease: Stuttering, Familial Persistent 1

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
rs556450190	AP4E1	1.000	0.080	15	50997380	missense variant	G/A	snv	2.5E-05	1.7E-04	3
rs760021635	AP4E1	1.000	0.080	15	50958492	missense variant	G/A	snv	8.2E-06	7.0E-06	3