DisGeNET - a database of gene-disease associations

List of associated variants

Amaurosis congenita of Leber, type 1, C2931258

Source: ALL

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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
rs150726175	NMNAT1	0.776	0.200	1	9982630	missense variant	G/A	snv	7.0E-04	8.5E-04	11
rs1327062642	TULP1	0.827	0.200	6	35509903	frameshift variant	-/G	delins	4.0E-06		11
rs104894673	CRX	0.776	0.160	19	47839335	missense variant	C/T	snv		2.1E-05	8
rs62645748	CRB1	0.807	0.080	1	197434706	missense variant	G/A	snv	2.1E-04	2.2E-04	7
rs398124615	CRB1	0.827	0.080	1	197328844	inframe insertion	AATTGATGG/-;AATTGATGGAATTGATGG	delins		7.7E-04	5
rs61750168	GUCY2D	0.851	0.080	17	8013918	missense variant	C/G;T	snv	4.0E-06; 1.5E-04		4
rs121917744	RPE65	0.851	0.080	1	68438228	missense variant	G/A;T	snv	1.6E-05		4
rs62636299	RPE65	0.882	0.040	1	68431371	missense variant	C/G	snv	4.0E-06	1.4E-05	4
rs2276717	SLC7A14 ; SLC7A14-AS1	0.851	0.080	3	170483441	missense variant	C/T	snv	1.7E-03	5.9E-04	4
rs62645747	CRB1	0.882	0.040	1	197429614	missense variant	T/A;C	snv			3
rs62645752	CRB1	0.882	0.080	1	197328961	frameshift variant	ATAGGAA/-	delins			3
rs1006935198	GUCY2D	0.882	0.080	17	8015048	stop gained	C/G	snv			3
rs61749670	GUCY2D	0.882	0.080	17	8003434	frameshift variant	C/-	delins	1.7E-05	7.0E-06	3
rs61749675	GUCY2D	0.882	0.080	17	8004104	missense variant	T/C	snv			3
rs776291294	SLC7A14 ; SLC7A14-AS1	0.882	0.080	3	170480312	missense variant	C/T	snv	1.5E-05	2.1E-05	3
rs150427474	AIPL1	1.000	0.040	17	6425644	missense variant	C/A;T	snv	3.8E-03; 8.0E-05		2
rs62637015	AIPL1	1.000	0.040	17	6425710	missense variant	C/A;T	snv	2.6E-03; 1.2E-05		2
rs373032226	GPHN ; RDH12	0.925	0.080	14	67727062	missense variant	C/T	snv	9.5E-05	2.8E-05	2
rs1555635778	GUCY2D	0.925	0.080	17	8014751	stop gained	C/T	snv			2
rs745897683	GUCY2D	1.000	0.040	17	8004035	missense variant	G/T	snv	4.0E-06		2
rs750889782	GUCY2D	0.925	0.040	17	8013919	missense variant	G/A	snv	8.0E-06	7.0E-06	2
rs757823463	GUCY2D	0.925	0.080	17	8016291	splice donor variant	G/C	snv	5.8E-06		2
rs121912554	IMPDH1	0.925	0.040	7	128400120	missense variant	A/C;G	snv	4.0E-06		2
rs371526758	NMNAT1	0.925	0.040	1	9982368	stop gained	G/A	snv	4.0E-05	1.2E-04	2
rs387907294	NMNAT1	0.925	0.040	1	9972098	missense variant	G/A	snv			2