DisGeNET - a database of gene-disease associations

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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	Num. diseases
rs397516089	MYH7	0.827	0.080	14	23429807	missense variant	C/G;T	snv		6
rs573916965	MYBPC3	0.827	0.080	11	47346297	stop gained	C/A;T	snv	2.5E-04	5
rs727503166	MYBPC3	0.851	0.080	11	47332110	frameshift variant	T/-	del		5