DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: LCA5 ×

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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
rs866395428	LCA5	1.000	0.040	6	79493633	stop gained	G/A	snv			3
rs121918165	LCA5	0.925	0.040	6	79493636	stop gained	G/A	snv	1.2E-04	5.6E-05	2
rs386834253	LCA5 ; LOC100506851	0.925	0.040	6	79487621	frameshift variant	-/T	delins			2
rs386834252	LOC100506851 ; LCA5	0.925	0.040	6	79489164	frameshift variant	G/-	delins	4.0E-06		2
rs878853382	LCA5			6	79513293	frameshift variant	TAGCTTC/-	delins			1
rs766143193	LCA5 ; LOC100506851	1.000	0.040	6	79487422	stop gained	G/A;T	snv	3.2E-05		1