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
rs1060500126	PTEN	0.790	0.160	10	87933223	missense variant	A/C;G	snv			8
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
rs587781784	PTEN	0.790	0.160	10	87952116	splice acceptor variant	A/C;G;T	snv			8
rs587776673	PTEN	0.790	0.160	10	87952130	frameshift variant	C/-	delins			7
rs121909221	PTEN	0.790	0.160	10	87952135	missense variant	T/A	snv			7
rs121913293	PTEN	0.732	0.360	10	87952142	missense variant	C/A;T	snv			18
rs397515374	PTEN	0.790	0.160	10	87952159	stop gained	TA/AT	mnv			7
rs587776670	PTEN	0.790	0.160	10	87952211	frameshift variant	C/-	del		7.0E-06	7
rs121909232	PTEN	0.776	0.160	10	87952258	stop gained	C/A;G	snv	4.0E-06		9
rs1114167622	PTEN	0.790	0.160	10	87952260	splice donor variant	G/C	snv			8
rs727504114	PTEN	0.790	0.160	10	87952261	splice donor variant	T/C;G	snv			8
rs1554900675	PTEN	0.790	0.160	10	87952263	splice region variant	A/T	snv			7
rs138336847	PTEN	0.790	0.160	10	87952264	splice region variant	G/A;C	snv	4.0E-06		8
rs876661024	PTEN	0.776	0.200	10	87957852	splice acceptor variant	G/A;C;T	snv			11
rs121909227	PTEN	0.776	0.240	10	87957858	stop gained	C/T	snv			8
rs1554825165	PTEN	0.790	0.160	10	87957872	stop gained	C/A	snv			7
rs587776669	PTEN	0.790	0.160	10	87957914	frameshift variant	A/-	del			7
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			24
rs587782350	PTEN	0.776	0.160	10	87957955	missense variant	C/T	snv			8
rs121909228	PTEN	0.790	0.160	10	87957984	stop gained	G/T	snv			7
rs587782455	PTEN	0.790	0.160	10	87960892	splice acceptor variant	A/G;T	snv	5.1E-05		8
rs587776672	PTEN	0.790	0.160	10	87960893	splice acceptor variant	G/-	delins			7
rs863224909	PTEN	0.732	0.360	10	87960952	stop gained	C/A;G	snv			14
rs1554825530	PTEN	0.790	0.160	10	87960957	frameshift variant	-/CT;TTCT	ins			7