DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: CONE-ROD DYSTROPHY 3 (disorder) ×

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
rs61751264	ABCA4	0.925	0.080	1	94079341	missense variant	G/A	snv			2
rs61750200	ABCA4	0.790	0.080	1	94098928	missense variant	G/A;T	snv	1.1E-04; 8.0E-06		2
rs62654395	ABCA4	0.925	0.080	1	94111546	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		2
rs55732384	ABCA4	0.851	0.080	1	94111561	missense variant	G/A	snv	1.6E-05	2.1E-05	1