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
rs63751001	ABCC6	0.790	0.240	16	16159555	missense variant	C/T	snv	2.8E-05		9
rs63751215	ABCC6	0.882	0.240	16	16159556	missense variant	G/A	snv	1.6E-05	2.1E-05	6
rs1555508604	ABCC6	0.925	0.200	16	16161437	splice donor variant	C/T	snv			5
rs63750457	ABCC6	0.925	0.200	16	16163008	missense variant	C/T	snv	2.4E-05	2.1E-05	8
rs72653744	ABCC6	0.807	0.320	16	16163009	stop gained	G/A	snv	1.7E-04	1.2E-04	12
rs72653743	ABCC6	1.000	0.160	16	16163072	stop gained	G/A	snv			5
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	21
rs60791294	ABCC6	0.882	0.280	16	16163086	missense variant	C/G;T	snv	7.6E-05		11
rs28939701	ABCC6	0.827	0.240	16	16163087	missense variant	G/A	snv	4.4E-05	3.5E-05	12
rs63750459	ABCC6	0.851	0.320	16	16163110	missense variant	G/A	snv	6.8E-05	6.3E-05	13
rs63749998	ABCC6	1.000	0.160	16	16163119	missense variant	A/G	snv		1.4E-05	5
rs63750427	ABCC6	0.882	0.200	16	16163158	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		6
rs63749794	ABCC6	0.925	0.160	16	16163159	missense variant	G/A	snv	9.2E-05	4.2E-05	7
rs72657692	ABCC6	0.851	0.280	16	16169667	missense variant	C/G;T	snv	4.1E-06; 2.5E-05		10
rs72653801	ABCC6	1.000	0.160	16	16169810	missense variant	G/A;T	snv	5.7E-06		5
rs72664219	ABCC6	1.000	0.160	16	16169820	frameshift variant	-/G	ins			3
rs72653704	ABCC6	1.000	0.160	16	16169827	stop gained	G/C;T	snv			4
rs72664209	ABCC6	0.827	0.240	16	16173283	splice donor variant	C/A	snv	8.0E-06; 1.2E-04	1.7E-04	12
rs749125777	ABCC6	1.000	0.160	16	16173287	missense variant	G/A;C	snv	4.0E-06; 8.0E-06		6
rs72653800	ABCC6	0.925	0.200	16	16175934	missense variant	C/A;T	snv	8.0E-06		5
rs72653794	ABCC6	0.882	0.280	16	16177622	missense variant	C/T	snv	2.4E-05	2.8E-05	9
rs72653790	ABCC6	1.000	0.160	16	16178884	missense variant	C/T	snv			3
rs66492417	ABCC6	0.882	0.240	16	16178909	stop gained	G/T	snv			10
rs67561842	ABCC6	0.925	0.160	16	16178919	missense variant	C/A;G;T	snv	4.0E-06; 3.6E-05		6
rs769405586	ABCC6	0.925	0.200	16	16178934	missense variant	C/A;T	snv	4.0E-06; 1.6E-05		6