DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1 ×

Variants associated to the Gene: RHO ×

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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
rs104893768	RHO	0.807	0.080	3	129528801	missense variant	C/A	snv			1
rs104893789	RHO	0.882	0.080	3	129532711	missense variant	C/A	snv			1
rs104893790	RHO	0.851	0.080	3	129529002	missense variant	G/A	snv			1
rs104893793	RHO	0.851	0.080	3	129531005	missense variant	C/A;T	snv	4.0E-06		1
rs104893796	RHO	0.851	0.080	3	129529014	missense variant	C/T	snv			1