DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Retinitis Pigmentosa ×

Variants associated to the Gene: PDE6A ×

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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
rs121918576	PDE6A	0.925	0.080	5	149886354	stop gained	G/C	snv		7.0E-06	2
rs139444207	PDE6A	0.925	0.080	5	149895206	missense variant	G/T	snv	1.2E-04	1.5E-04	1
rs141252097	PDE6A	0.925	0.080	5	149944370	missense variant	G/A;T	snv	2.4E-05; 1.7E-04		1
rs144484128	PDE6A	1.000	0.080	5	149895281	missense variant	G/A	snv	1.2E-05	7.0E-06	1
rs753942596	PDE6A	1.000	0.080	5	149884549	stop gained	G/A	snv	2.8E-05	7.0E-06	1
rs754012367	PDE6A	1.000	0.080	5	149866193	frameshift variant	GTCA/-	delins	2.4E-05	3.5E-05	1
rs146591309	PDE6A ; MFFP2	1.000	0.080	5	149931117	stop gained	G/A	snv	3.6E-05	4.9E-05	1