DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Developmental delay (disorder) ×

Variants associated to the Gene: PTEN ×

Results per page

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
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			29
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			24
rs121913293	PTEN	0.732	0.360	10	87952142	missense variant	C/A;T	snv			18
rs1085308043	PTEN	0.763	0.200	10	87925511	splice acceptor variant	A/G;T	snv			12