DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Gene: STXBP4 ×

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
rs6504950	STXBP4	0.807	0.120	17	54979110	intron variant	G/A	snv		0.29	7
rs2787486	STXBP4	0.925	0.080	17	55132413	intron variant	A/C	snv		0.33	3
rs2787487	STXBP4	0.925	0.080	17	55132021	intron variant	G/C	snv		0.64	2
rs1156287	STXBP4	0.925	0.080	17	54999438	missense variant	G/A	snv	0.78	0.79	2