DisGeNET - a database of gene-disease associations

List of associated variants

Cataract, Congenital Nuclear, Autosomal Recessive 2, C1857853

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
rs74315490	CRYBB3	0.925	0.200	22	25207069	missense variant	G/A;C	snv	2.0E-05; 1.2E-05		2
rs587777601	CRYBB3	1.000	0.080	22	25207157	missense variant	T/A	snv			1