DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Osteopoikilosis, Isolated ×

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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
rs267607216	LEMD3	0.851	0.120	12	65245931	stop gained	G/A	snv			3
rs267607217	LEMD3	0.827	0.120	12	65239970	stop gained	C/T	snv			3