DisGeNET - a database of gene-disease associations

List of associated variants

Usher syndrome, type 1A, C2931205

Source: ALL

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
rs121908143	CLRN1 ; CLRN1-AS1	0.827	0.200	3	150972591	missense variant	A/C;G	snv	8.0E-05; 4.0E-06		6
rs111033267	CLRN1 ; CLRN1-AS1	0.851	0.200	3	150972520	stop gained	G/A;T	snv	1.2E-05; 1.2E-05		5