DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Leber Congenital Amaurosis ×

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
rs61750130	ABCA4	0.807	0.080	1	94031110	missense variant	G/A	snv	2.4E-04	2.3E-04	6
rs61749423	ABCA4	0.925	0.040	1	94060656	stop gained	G/A;T	snv	8.0E-06; 4.4E-05		3
rs61751404	ABCA4	0.882	0.080	1	94021340	missense variant	G/A;C	snv	3.2E-05; 4.0E-06		3