DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Muscle hypotonia ×

Variants associated to the Gene: VPS13B ×

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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
rs386834070	VPS13B	0.851	0.360	8	99134644	stop gained	C/T	snv			9
rs886041185	VPS13B	0.925	0.320	8	99835295	frameshift variant	-/A	delins			4
rs120074152	VPS13B	0.925	0.320	8	99384294	stop gained	C/T	snv	4.0E-06	7.0E-06	3
rs1554884733	VPS13B	1.000		8	99641974	frameshift variant	-/GTCC	delins			3