DisGeNET - a database of gene-disease associations

List of associated variants

Macular dystrophy, C0730292

Source: CLINVAR ×

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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
rs1800728	ABCA4	0.807	0.080	1	94011395	intron variant	A/G	snv	2.3E-04	3.0E-04	8
rs61751374	ABCA4	0.776	0.160	1	94043413	missense variant	G/A	snv	1.7E-03	1.7E-03	8
rs1800553	ABCA4	0.742	0.240	1	94008251	missense variant	C/T	snv	4.7E-03	3.0E-03	7
rs61750641	ABCA4	0.790	0.080	1	94005499	missense variant	C/T	snv	3.5E-04	4.7E-04	7
rs281865377	ABCA4	0.807	0.080	1	94029447	frameshift variant	G/-;GG	delins		2.1E-05	6
rs62645944	ABCA4	0.807	0.080	1	94098794	splice region variant	C/A	snv	8.8E-05	6.3E-05	6
rs61751392	ABCA4	0.827	0.080	1	94063250	missense variant	A/G	snv	1.5E-04	1.7E-04	5
rs201471607	ABCA4	0.851	0.080	1	94046943	missense variant	T/C	snv	1.4E-04	7.7E-05	4
rs61751263	ABCA4	0.882	0.080	1	94060760	splice acceptor variant	C/T	snv	4.2E-06	1.4E-05	3
rs61751402	ABCA4	0.882	0.080	1	94029515	missense variant	C/T	snv	6.3E-05	5.6E-05	3
rs778234759	ABCA4	0.925	0.040	1	94018445	intron variant	C/T	snv		1.3E-04	3
rs1553196583	ABCA4	0.925	0.040	1	94111453	frameshift variant	T/-	delins			2
rs61748556	ABCA4	0.925	0.040	1	94063263	missense variant	G/A	snv	2.4E-05	2.8E-05	2
rs62642564	ABCA4	0.925	0.040	1	94001068	missense variant	C/G;T	snv	1.5E-03		2
rs1553192682	ABCA4	1.000	0.040	1	94063115	missense variant	T/C	snv			1
rs1553195472	ABCA4	1.000	0.040	1	94098843	missense variant	A/C	snv			1
rs61748545	ABCA4	0.925	0.040	1	94080651	missense variant	G/C	snv	1.0E-04	3.8E-04	1
rs61749455	ABCA4	0.882	0.080	1	94044692	stop gained	C/A;G;T	snv	5.6E-04; 4.0E-06		1
rs749537392	ATF6	1.000	0.040	1	161819741	missense variant	G/A;C	snv	2.4E-05	7.0E-06	1
rs281865239	BEST1 ; LOC107984334	0.882	0.080	11	61957403	missense variant	G/A	snv	1.2E-05	1.4E-05	2
rs281865255	BEST1 ; LOC107984334	0.925	0.080	11	61959517	missense variant	A/G	snv			2
rs724159985	CDH3	0.925	0.160	16	68679936	frameshift variant	G/-	delins			2
rs137852834	CEP290	0.763	0.280	12	88083936	stop gained	T/A	snv	5.5E-05	9.1E-05	12
rs771454167	CEP290	0.827	0.240	12	88062772	frameshift variant	C/-	del	4.7E-05; 5.2E-06	2.1E-05	6
rs1553515435	CERKL	0.925	0.040	2	181566055	splice region variant	T/C	snv			3