DisGeNET - a database of gene-disease associations

List of associated variants

Cataract, Congenital, Cerulean Type, 2, C1832175

Source: CLINVAR ×

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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
rs74315489	CRYBB2	0.925	0.200	22	25231617	stop gained	C/T	snv			2
rs886041410	CRYBB2	0.925	0.200	22	25231717	missense variant	G/A;T	snv			2
rs1555888762	CRYBB2	1.000	0.040	22	25225024	missense variant	T/G	snv			1
rs1555889308	CRYBB2	1.000	0.040	22	25231705	missense variant	T/G	snv			1
rs864309698	CRYBB2	1.000	0.040	22	25229484	missense variant	G/A	snv			1