DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Myopathy ×

Variants associated to the Gene: COL6A2 ×

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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
rs139552940	COL6A2			21	46131981	missense variant	G/A	snv	5.9E-05	4.2E-05	1
rs774521989	COL6A2			21	46132125	missense variant	C/T	snv	1.6E-05	4.9E-05	1
rs797045478	COL6A2			21	46116045	missense variant	G/A	snv			1