DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Movement Disorders ×

Variants associated to the Gene: STXBP1 ×

Results per page

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
rs796053361	STXBP1	0.925	0.040	9	127668160	missense variant	G/A;T	snv			4
rs1554777375	STXBP1			9	127665304	frameshift variant	-/A	delins			2
rs1554777919	STXBP1			9	127669950	frameshift variant	G/-	delins			2
rs1554778941	STXBP1			9	127682485	frameshift variant	G/-	delins			2
rs1554776842	STXBP1			9	127660080	frameshift variant	C/-	delins			1
rs767199598	STXBP1			9	127682451	stop gained	C/A;T	snv			1