DisGeNET - a database of gene-disease associations

List of associated variants

Proteus-Like Syndrome (disorder), C1866398

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	AF GENOME	Num. diseases
rs1554897889	PTEN	0.790	0.160	10	87931094	splice region variant	G/A;T	snv			7
rs1554898083	PTEN	0.790	0.160	10	87933057	frameshift variant	-/T	delins			7
rs1554898085	PTEN	0.790	0.160	10	87933061	frameshift variant	-/AAACC	delins			7
rs1554898242	PTEN	0.790	0.160	10	87933252	splice donor variant	G/T	snv			7
rs1554898244	PTEN	0.790	0.160	10	87933253	splice donor variant	T/C;G	snv			7
rs1554900675	PTEN	0.790	0.160	10	87952263	splice region variant	A/T	snv			7
rs397515374	PTEN	0.790	0.160	10	87952159	stop gained	TA/AT	mnv			7
rs587776666	PTEN	0.790	0.160	10	87933106	frameshift variant	ACAAT/-	del			7
rs587776669	PTEN	0.790	0.160	10	87957914	frameshift variant	A/-	del			7
rs587776670	PTEN	0.790	0.160	10	87952211	frameshift variant	C/-	del		7.0E-06	7
rs587776671	KLLN ; PTEN	0.790	0.160	10	87864506	frameshift variant	AA/-;AAA	delins			7
rs587776672	PTEN	0.790	0.160	10	87960893	splice acceptor variant	G/-	delins			7
rs587776673	PTEN	0.790	0.160	10	87952130	frameshift variant	C/-	delins			7
rs886037891	EGFR	0.790	0.160	7	55155917	missense variant	G/T	snv	4.0E-06		7
rs1085308043	PTEN	0.763	0.200	10	87925511	splice acceptor variant	A/G;T	snv			12
rs876661024	PTEN	0.776	0.200	10	87957852	splice acceptor variant	G/A;C;T	snv			11
rs1064793345	PTEN	0.752	0.240	10	87961039	missense variant	T/C	snv			10
rs398123318	PTEN	0.776	0.240	10	87925558	splice region variant	AGTA/-	delins			9
rs121909227	PTEN	0.776	0.240	10	87957858	stop gained	C/T	snv			8
rs121909222	PTEN	0.742	0.240	10	87933127	missense variant	A/G	snv			7
rs587776667	PTEN	0.742	0.280	10	87931090	splice donor variant	G/A;C;T	snv			14
rs121913293	PTEN	0.732	0.360	10	87952142	missense variant	C/A;T	snv			18
rs121909218	PTEN	0.672	0.360	10	87933145	missense variant	G/A	snv			14
rs863224909	PTEN	0.732	0.360	10	87960952	stop gained	C/A;G	snv			14
rs370795352	PTEN	0.742	0.360	10	87933163	missense variant	T/A;C	snv	4.0E-06		13