DisGeNET - a database of gene-disease associations

List of associated variants

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor, C1866376

Source: ALL

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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
rs1554898085	PTEN	0.790	0.160	10	87933061	frameshift variant	-/AAACC	delins			7
rs1554825530	PTEN	0.790	0.160	10	87960957	frameshift variant	-/CT;TTCT	ins			7
rs1554898083	PTEN	0.790	0.160	10	87933057	frameshift variant	-/T	delins			7
rs587776669	PTEN	0.790	0.160	10	87957914	frameshift variant	A/-	del			7
rs1085308041	PTEN	0.763	0.160	10	87965285	splice acceptor variant	A/C;G	snv			12
rs1060500126	PTEN	0.790	0.160	10	87933223	missense variant	A/C;G	snv			8
rs587781784	PTEN	0.790	0.160	10	87952116	splice acceptor variant	A/C;G;T	snv			8
rs121909222	PTEN	0.742	0.240	10	87933127	missense variant	A/G	snv			13
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs1085308043	PTEN	0.763	0.200	10	87925511	splice acceptor variant	A/G;T	snv			12
rs587782455	PTEN	0.790	0.160	10	87960892	splice acceptor variant	A/G;T	snv	5.1E-05		8
rs1554900675	PTEN	0.790	0.160	10	87952263	splice region variant	A/T	snv			7
rs587776671	KLLN ; PTEN	0.790	0.160	10	87864506	frameshift variant	AA/-;AAA	delins			7
rs587776666	PTEN	0.790	0.160	10	87933106	frameshift variant	ACAAT/-	del			7
rs398123318	PTEN	0.776	0.240	10	87925558	splice region variant	AGTA/-	delins			9
rs1554897854	PTEN	0.790	0.160	10	87931042	splice acceptor variant	AGTT/-	delins			7
rs1554825643	PTEN	0.790	0.160	10	87961107	frameshift variant	C/-	delins			7
rs587776670	PTEN	0.790	0.160	10	87952211	frameshift variant	C/-	del		7.0E-06	7
rs587776673	PTEN	0.790	0.160	10	87952130	frameshift variant	C/-	delins			7
rs1554825165	PTEN	0.790	0.160	10	87957872	stop gained	C/A	snv			7
rs863224909	PTEN	0.732	0.360	10	87960952	stop gained	C/A;G	snv			14
rs121909232	PTEN	0.776	0.160	10	87952258	stop gained	C/A;G	snv	4.0E-06		9
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			32
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			25
rs121913293	PTEN	0.732	0.360	10	87952142	missense variant	C/A;T	snv			18