DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: MYOPIA 6 (disorder) ×

Variants associated to the Gene: SCO2 ×

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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
rs74315511	NCAPH2 ; SCO2	0.925	0.240	22	50523994	missense variant	C/T	snv	8.0E-05	1.1E-04	4
rs74315510	NCAPH2 ; SCO2	0.925	0.240	22	50524255	stop gained	G/A	snv	8.4E-05	3.5E-05	2