DisGeNET - a database of gene-disease associations

List of associated variants

Retinal Hemorrhage, C0035317

Source: CURATED ×

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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
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	21
rs72653772	ABCC6	0.807	0.320	16	16190246	missense variant	C/T	snv	8.4E-05	1.1E-04	16
rs28939702	ABCC6	0.851	0.320	16	16154899	missense variant	G/A;T	snv	8.2E-05		13
rs63750459	ABCC6	0.851	0.320	16	16163110	missense variant	G/A	snv	6.8E-05	6.3E-05	13
rs72653762	ABCC6	0.851	0.240	16	16202006	missense variant	T/C	snv	5.6E-03	4.7E-03	13
rs28939701	ABCC6	0.827	0.240	16	16163087	missense variant	G/A	snv	4.4E-05	3.5E-05	12
rs63751241	ABCC6	0.882	0.280	16	16154638	missense variant	C/T	snv	4.0E-05	1.4E-05	12
rs72653744	ABCC6	0.807	0.320	16	16163009	stop gained	G/A	snv	1.7E-04	1.2E-04	12
rs72664209	ABCC6	0.827	0.240	16	16173283	splice donor variant	C/A	snv	8.0E-06; 1.2E-04	1.7E-04	12
rs60791294	ABCC6	0.882	0.280	16	16163086	missense variant	C/G;T	snv	7.6E-05		11
rs63749856	ABCC6	0.851	0.200	16	16155010	missense variant	C/T	snv	4.8E-05	2.8E-05	11
rs63750759	ABCC6	0.851	0.280	16	16154974	missense variant	G/A;T	snv	1.9E-04; 5.4E-06		11
rs72650699	ABCC6	0.851	0.280	16	16202045	stop gained	G/A	snv	4.8E-05	1.8E-04	11
rs72650700	ABCC6	0.827	0.240	16	16190247	stop gained	G/A;T	snv	4.4E-05; 4.0E-06		11
rs66492417	ABCC6	0.882	0.240	16	16178909	stop gained	G/T	snv			10
rs72657692	ABCC6	0.851	0.280	16	16169667	missense variant	C/G;T	snv	4.1E-06; 2.5E-05		10
rs72664233	ABCC6	0.882	0.200	16	16157770	frameshift variant	A/-	del	8.4E-05	4.9E-05	10
rs63749796	ABCC6	0.925	0.200	16	16159505	missense variant	C/G	snv			9
rs63750273	ABCC6	0.851	0.240	16	16157810	splice acceptor variant	C/T	snv	4.1E-05	1.4E-05	9
rs63750410	ABCC6	0.882	0.240	16	16155007	missense variant	C/G;T	snv	6.0E-06; 1.2E-05		9
rs63750622	ABCC6	0.925	0.200	16	16154898	missense variant	C/A;G;T	snv	4.1E-06; 4.1E-06; 1.6E-05		9
rs63751001	ABCC6	0.790	0.240	16	16159555	missense variant	C/T	snv	2.8E-05		9
rs72653786	ABCC6	0.882	0.280	16	16178961	missense variant	A/G;T	snv			9
rs72653787	ABCC6	0.925	0.200	16	16178950	missense variant	C/T	snv	3.6E-05	3.5E-05	9
rs72653794	ABCC6	0.882	0.280	16	16177622	missense variant	C/T	snv	2.4E-05	2.8E-05	9