DisGeNET - a database of gene-disease associations

List of associated variants

Low Vision, C0042798

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
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs781939614	PEX11B	0.851	0.240	1	145916914	stop gained	G/A	snv	4.0E-06		11
rs781984979	PEX11B	0.851	0.240	1	145912346	stop gained	G/A	snv	4.0E-06		11
rs751375244	TRAPPC3	0.827	0.280	1	36139776	missense variant	G/A	snv	1.2E-05	3.5E-05	6
rs398123339	ABCA4	0.851	0.120	1	94113068	splice acceptor variant	T/C	snv	4.0E-06		5
rs1057518767	ABCA4	0.851	0.120	1	94098874	missense variant	A/T	snv			4
rs1057518955	ABCA4	1.000	0.120	1	94019602	frameshift variant	-/C	delins	4.1E-06		2
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	2
rs1131692229	KIDINS220	0.851	0.120	2	8730956	frameshift variant	GT/-	delins			11
rs777476179	ALMS1	0.851	0.280	2	73448259	frameshift variant	A/-	del		1.4E-05	5
rs80338747	LRP2	0.925	0.320	2	169205630	missense variant	A/G	snv			1
rs398124401	SRD5A3	0.695	0.480	4	55346393	stop gained	G/A	snv	1.2E-04	2.8E-05	25
rs121918327	BBS12	0.776	0.240	4	122742955	stop gained	C/T	snv	2.8E-05	1.4E-05	12
rs1243762658	TENM3	0.851	0.160	4	182754413	missense variant	C/A;G	snv	4.2E-06	7.0E-06	5
rs755000701	TENM3	0.851	0.160	4	182799938	missense variant	C/T	snv	9.2E-06	1.4E-05	5
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs61755771	PRPH2	0.827	0.160	6	42722199	stop gained	G/A	snv	1.6E-05	1.4E-05	2
rs775081992	BBS9	0.851	0.240	7	33152811	stop gained	C/T	snv	2.0E-05		5
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs752362727	TMEM67	0.716	0.480	8	93786255	missense variant	C/T	snv	2.0E-05		22
rs386834055	VPS13B	0.925	0.320	8	99853469	frameshift variant	-/A	delins			9
rs1057516264	TPP1	0.776	0.280	11	6614968	frameshift variant	C/-;CC	delins			13
rs121907922	ELP4 ; PAX6	0.742	0.320	11	31789935	stop gained	T/A	snv			12