DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Crumpled ear ×

Variants associated to the Gene: UNC80 ×

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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
rs200473652	UNC80	0.807	0.200	2	209819105	missense variant	G/C	snv	1.4E-03	1.6E-03	7
rs886041094	UNC80	0.807	0.200	2	209941379	missense variant	G/A	snv	1.9E-05	2.1E-05	7