DisGeNET - a database of gene-disease associations

List of associated variants

MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO, C3551915

Source: CURATED ×

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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
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			29
rs121913293	PTEN	0.732	0.360	10	87952142	missense variant	C/A;T	snv			18
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
rs1224040268	PTEN	0.742	0.360	10	87931091	splice donor variant	T/A;C	snv		7.0E-06	12
rs387906857	SMARCE1	1.000		17	40637511	missense variant	T/C;G	snv			2
rs1060501395	SMARCE1			17	40636451	stop gained	G/A	snv			1
rs1555605347	SMARCE1			17	40631651	stop gained	G/A	snv			1
rs1555605750	SMARCE1			17	40636017	frameshift variant	GC/A	delins			1
rs397509405	SMARCE1			17	40631693	stop gained	G/A	snv			1
rs397509406	SMARCE1			17	40637490	splice donor variant	A/G	snv			1
rs397509407	SMARCE1			17	40636453	stop gained	C/G;T	snv			1
rs397509408	SMARCE1			17	40632336	frameshift variant	-/G	delins	4.0E-06; 1.2E-05		1
rs797045990	SMARCE1			17	40632282	frameshift variant	CACT/-	delins			1
rs878854603	SMARCE1			17	40635947	frameshift variant	A/-	del			1
rs202247756	SUFU	1.000	0.080	10	102550019	missense variant	C/T	snv			1