DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Leber Congenital Amaurosis ×

Variants associated to the Gene: AIPL1 ×

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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
rs62637012	AIPL1	0.925	0.040	17	6426684	missense variant	A/G	snv			2
rs62637014	AIPL1	0.925	0.040	17	6425781	stop gained	C/T	snv	3.3E-04	3.8E-04	2
rs142326926	AIPL1	1.000	0.040	17	6426615	missense variant	C/T	snv	3.2E-05	4.9E-05	1
rs62637010	AIPL1	1.000	0.040	17	6426934	missense variant	C/G	snv			1
rs62637011	AIPL1	1.000	0.040	17	6426906	missense variant	A/T	snv			1