DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathy, Dilated ×

Variants associated to the Gene: DSP ×

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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
rs730880093	DSP			6	7583655	frameshift variant	A/-	del			1
rs794728136	DSP	1.000	0.080	6	7555820	frameshift variant	T/-	del			2
rs869025398	DSP			6	7567451	splice donor variant	T/G	snv			1
rs869025399	DSP			6	7582986	frameshift variant	A/-	delins			1
rs879255521	DSP			6	7580193	stop gained	C/T	snv	4.0E-06		1