DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Delayed speech and language development ×

Variants associated to the Gene: ATP1A3 ×

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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
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			17
rs879255368	ATP1A3			19	41984953	missense variant	C/G;T	snv			5