DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Leber Congenital Amaurosis ×

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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	Num. diseases
rs61750168	GUCY2D	0.851	0.080	17	8013918	missense variant	C/G;T	snv	4.0E-06; 1.5E-04	4
rs758593134	TMTC3 ; CEP290	0.851	0.200	12	88140955	splice donor variant	C/T	snv	4.6E-06	4
rs281865175	CRB1	0.882	0.080	1	197477775	frameshift variant	CAACTCAGGG/-	delins		3
rs387907009	IQCB1	0.882	0.200	3	121790166	stop gained	C/A	snv	1.2E-05	3
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
rs62642583	RPE65	0.882	0.080	1	68444818	frameshift variant	AAATTCTGTTATGACGATCC/-	delins		3
rs62645752	CRB1	0.882	0.080	1	197328961	frameshift variant	ATAGGAA/-	delins		3
rs759940113	RPGRIP1	0.882	0.080	14	21325903	stop gained	C/A;T	snv	8.0E-06	3
rs866395428	LCA5	1.000	0.040	6	79493633	stop gained	G/A	snv		3
rs104894474	RDH12 ; GPHN	0.882	0.080	14	67726086	stop gained	G/T	snv		2
rs121917744	RPE65	0.851	0.080	1	68438228	missense variant	G/A;T	snv	1.6E-05	2
rs137853124	RPGRIP1	0.925	0.040	14	21294785	stop gained	G/A	snv		2
rs1554125752	TULP1	0.925	0.080	6	35506146	frameshift variant	-/G	delins		2
rs1556313552	RP2	0.925	0.080	X	46837202	splice region variant	G/A	snv		2
rs28937883	RPGRIP1	0.925	0.080	14	21325943	missense variant	G/A;T	snv	6.0E-05	2
rs386834241	SPATA7	0.925	0.080	14	88429394	frameshift variant	-/A	delins		2
rs386834243	SPATA7	0.925	0.080	14	88438016	frameshift variant	A/-	delins		2
rs386834252	LOC100506851 ; LCA5	0.925	0.040	6	79489164	frameshift variant	G/-	delins	4.0E-06	2
rs386834253	LCA5 ; LOC100506851	0.925	0.040	6	79487621	frameshift variant	-/T	delins		2
rs386834260	RD3	0.925	0.040	1	211481119	splice donor variant	C/A;T	snv	4.0E-06	2
rs61751266	RPGRIP1	0.925	0.040	14	21312458	frameshift variant	A/-	delins		2
rs62635288	CEP290 ; TMTC3	0.882	0.240	12	88141287	missense variant	C/A	snv		2
rs62637012	AIPL1	0.925	0.040	17	6426684	missense variant	A/G	snv		2
rs62645747	CRB1	0.882	0.040	1	197429614	missense variant	T/A;C	snv		2