DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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	Num. diseases
rs121913294	PTEN	0.776	0.280	10	87952143	missense variant	G/A;C;T	snv	8.0E-06	11
rs1085308056	PTEN	0.851	0.160	10	87957850	splice region variant	C/G	snv		8
rs1554893835	PTEN	0.827	0.240	10	87894110	splice donor variant	G/C;T	snv		8