DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Autosomal recessive retinitis pigmentosa ×

Variants associated to the Gene: ABCA4 ×

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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
rs61750200	ABCA4	0.790	0.080	1	94098928	missense variant	G/A;T	snv	1.1E-04; 8.0E-06		4
rs139250920	ABCA4	1.000	0.080	1	94055212	missense variant	G/A	snv	1.7E-04	2.8E-04	1
rs886044720	ABCA4	0.925	0.080	1	94112973	missense variant	A/C	snv			1