DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: von Willebrand's factor (lab test) ×

Variants associated to the Gene: DBN1 ×

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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
rs2544809	DBN1			5	177458498	missense variant	T/C	snv	0.46; 4.0E-06	0.50	1
rs2545794	DBN1			5	177467755	synonymous variant	C/T	snv	0.43	0.48	1
rs335420	DBN1			5	177471618	intron variant	T/C;G	snv			1
rs335466	DBN1			5	177462529	intron variant	C/A;G;T	snv			1
rs335467	DBN1			5	177463641	intron variant	A/G	snv		0.43	1
rs335468	DBN1			5	177465348	intron variant	G/A	snv		0.40	1
rs337374	DBN1			5	177463415	intron variant	G/A	snv		0.43	1