DisGeNET - a database of gene-disease associations

List of associated variants

BARDET-BIEDL SYNDROME 11, C1859569

Source: CLINVAR ×

Results per page

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
rs111033571	ASTN2 ; TRIM32	0.925	0.120	9	116698130	missense variant	C/T	snv	8.0E-06	1.4E-05	2
rs3747835	ASTN2 ; TRIM32	1.000	0.120	9	116698964	missense variant	C/T	snv	1.5E-03	1.1E-03	1