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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs886037891	EGFR	0.790	0.160	7	55155917	missense variant	G/T	snv	4.0E-06		7
rs587776671	KLLN ; PTEN	0.790	0.160	10	87864506	frameshift variant	AA/-;AAA	delins			7
rs121909225	PTEN	0.790	0.160	10	87894049	missense variant	T/C;G	snv			8
rs1085308043	PTEN	0.763	0.200	10	87925511	splice acceptor variant	A/G;T	snv			12
rs786203847	PTEN	0.790	0.160	10	87925512	splice acceptor variant	G/A;C	snv			8
rs398123317	PTEN	0.790	0.160	10	87925550	missense variant	T/A;C;G	snv			8
rs121909226	PTEN	0.790	0.160	10	87925557	missense variant	T/C	snv			7
rs398123318	PTEN	0.776	0.240	10	87925558	splice region variant	AGTA/-	delins			9
rs1114167650	PTEN	0.790	0.160	10	87925562	splice region variant	G/A	snv			8
rs1554897854	PTEN	0.790	0.160	10	87931042	splice acceptor variant	AGTT/-	delins			7
rs1114167621	PTEN	0.790	0.160	10	87931045	splice acceptor variant	G/A;C;T	snv			8
rs587776667	PTEN	0.742	0.280	10	87931090	splice donor variant	G/A;C;T	snv			14
rs1224040268	PTEN	0.742	0.360	10	87931091	splice donor variant	T/A;C	snv		7.0E-06	12
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
rs587776666	PTEN	0.790	0.160	10	87933106	frameshift variant	ACAAT/-	del			7
rs121909222	PTEN	0.742	0.240	10	87933127	missense variant	A/G	snv			7
rs121909223	PTEN	0.790	0.160	10	87933129	missense variant	T/C;G	snv			8
rs121909218	PTEN	0.672	0.360	10	87933145	missense variant	G/A	snv			14
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs121909229	PTEN	0.683	0.400	10	87933148	missense variant	G/A;C;T	snv			23
rs121909241	PTEN	0.790	0.160	10	87933154	missense variant	G/A;T	snv			8
rs370795352	PTEN	0.742	0.360	10	87933163	missense variant	T/A;C	snv	4.0E-06		13