DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Leber Congenital Amaurosis ×

Variants associated to the Gene: IQCB1 ×

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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
rs387907009	IQCB1	0.882	0.200	3	121790166	stop gained	C/A	snv	1.2E-05		3
rs750962965	IQCB1	0.882	0.200	3	121808978	frameshift variant	AA/-	delins	1.0E-04	1.4E-04	3
rs1553722736	IQCB1	1.000	0.040	3	121828473	stop gained	A/C	snv			1
rs201405662	IQCB1	1.000	0.040	3	121828519	stop gained	G/A;C	snv	3.6E-05; 8.0E-06		1