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
rs1057519444	SYN3	0.925	0.120	22	32518208	missense variant	GG/AA	mnv			5
rs777476179	ALMS1	0.851	0.280	2	73448259	frameshift variant	A/-	del		1.4E-05	5
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs1057516264	TPP1	0.776	0.280	11	6614968	frameshift variant	C/-;CC	delins			13
rs1554901898	TPP1	0.776	0.280	11	6616858	frameshift variant	A/-	delins			12
rs1131692229	KIDINS220	0.851	0.120	2	8730956	frameshift variant	GT/-	delins			11
rs386834055	VPS13B	0.925	0.320	8	99853469	frameshift variant	-/A	delins			9
rs1567815105	ADGRG1	0.807	0.240	16	57660794	frameshift variant	-/T	delins			7
rs1057519463	HEXA	0.882	0.240	15	72349160	frameshift variant	GAACTCAT/-	delins			6
rs1555302200	RPGRIP1	0.925	0.120	14	21326029	frameshift variant	-/TT	delins			4
rs1057518955	ABCA4	1.000	0.120	1	94019602	frameshift variant	-/C	delins	4.1E-06		2
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			35
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs398124401	SRD5A3	0.695	0.480	4	55346393	stop gained	G/A	snv	1.2E-04	2.8E-05	25
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs752362727	TMEM67	0.716	0.480	8	93786255	missense variant	C/T	snv	2.0E-05		22
rs398122394	ALG13	0.763	0.240	X	111685040	missense variant	A/G	snv			16