DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Autistic Disorder ×

Variants associated to the Gene: PTEN ×

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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
rs1064793345	PTEN	0.752	0.240	10	87961039	missense variant	T/C	snv			11
rs876660634	PTEN	0.807	0.200	10	87925551	missense variant	A/C;G	snv			10
rs9651492	PTEN	0.882	0.160	10	87933216	missense variant	G/A;C	snv			3
rs745638189	PTEN	1.000	0.040	10	87960997	missense variant	G/A	snv	4.0E-06	7.0E-06	2