DisGeNET - a database of gene-disease associations

List of shared variants

Bardet-Biedl syndrome 3, C1859564

Disease: Bardet-Biedl Syndrome

Source: ALL

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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
rs771054395	ARL6	0.882	0.120	3	97784981	missense variant	T/C	snv	3.2E-05	2.1E-05	3
rs104893678	ARL6	0.925	0.120	3	97788004	stop gained	C/T	snv	8.0E-06		2