DisGeNET - a database of gene-disease associations

List of associated variants

Macular dystrophy, C0730292

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
rs80338903	USH2A	0.701	0.360	1	216247095	frameshift variant	C/-	del	7.6E-04	5.4E-04	25
rs1800553	ABCA4	0.742	0.240	1	94008251	missense variant	C/T	snv	4.7E-03	3.0E-03	17
rs121434491	EFEMP1 ; LOC112268416	0.752	0.200	2	55871091	missense variant	G/A	snv			15
rs137852834	CEP290	0.763	0.280	12	88083936	stop gained	T/A	snv	5.5E-05	9.1E-05	13
rs137853006	PROM1	0.776	0.080	4	16013299	missense variant	G/A	snv			11
rs61751374	ABCA4	0.776	0.160	1	94043413	missense variant	G/A	snv	1.7E-03	1.7E-03	10
rs61755792	PRPH2	0.763	0.160	6	42721821	missense variant	G/A;C	snv			10
rs1800728	ABCA4	0.807	0.080	1	94011395	intron variant	A/G	snv	2.3E-04	3.0E-04	8
rs768435443	ABCA4	0.807	0.080	1	94055128	missense variant	A/G	snv	4.0E-06		8
rs104893968	GUCA1A	0.790	0.200	6	42173762	missense variant	C/G;T	snv	4.0E-06; 1.2E-03		8
rs201471607	ABCA4	0.851	0.080	1	94046943	missense variant	T/C	snv	1.4E-04	7.7E-05	7
rs61750641	ABCA4	0.790	0.080	1	94005499	missense variant	C/T	snv	3.5E-04	4.7E-04	7
rs61751392	ABCA4	0.827	0.080	1	94063250	missense variant	A/G	snv	1.5E-04	1.7E-04	7
rs62645944	ABCA4	0.807	0.080	1	94098794	splice region variant	C/A	snv	8.8E-05	6.3E-05	7
rs281865377	ABCA4	0.807	0.080	1	94029447	frameshift variant	G/-;GG	delins		2.1E-05	6
rs771454167	CEP290	0.827	0.240	12	88062772	frameshift variant	C/-	del	4.7E-05; 5.2E-06	2.1E-05	6
rs777103184	PCARE	0.827	0.040	2	29073071	stop gained	C/T	snv	8.0E-06		6
rs61755793	PRPH2	0.807	0.080	6	42721820	missense variant	C/T	snv	4.0E-06		6
rs398124615	CRB1	0.827	0.080	1	197328844	inframe insertion	AATTGATGG/-;AATTGATGGAATTGATGG	delins		7.7E-04	5
rs104893967	GUCA1A	0.827	0.080	6	42178374	missense variant	A/G	snv			5
rs1553348960	LOC112268416 ; EFEMP1	0.882	0.080	2	55870851	missense variant	A/G	snv			5
rs751163782	RAB28	0.882	0.040	4	13369888	missense variant	A/C;G	snv	4.0E-06; 1.2E-05		5
rs875989778	RAB28	0.882	0.040	4	13479429	splice donor variant	C/G	snv			5
rs61751402	ABCA4	0.882	0.080	1	94029515	missense variant	C/T	snv	6.3E-05	5.6E-05	4
rs62625014	CNGA1 ; NIPAL1 ; LOC101927157	0.851	0.080	4	47937535	missense variant	G/A;C	snv	1.1E-03; 2.4E-05		4