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
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
rs1057523354	COL4A1	0.763	0.480	13	110179387	missense variant	C/A	snv			13
rs121907922	ELP4 ; PAX6	0.742	0.320	11	31789935	stop gained	T/A	snv			12
rs121918327	BBS12	0.776	0.240	4	122742955	stop gained	C/T	snv	2.8E-05	1.4E-05	12
rs1555570093	MPDU1	0.807	0.280	17	7586699	missense variant	G/A	snv			12
rs376754460	PMM2	0.807	0.280	16	8801859	missense variant	G/A;C;T	snv	8.0E-06		12
rs199473457	KCNQ1	0.827	0.200	11	2572020	missense variant	C/A;T	snv			11
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
rs1567941252	PCGF2	0.807	0.240	17	38739601	missense variant	G/A	snv			10
rs2723341	NR2E3	0.807	0.160	15	71811481	splice acceptor variant	A/C	snv	5.3E-04	5.1E-04	8
rs751375244	TRAPPC3	0.827	0.280	1	36139776	missense variant	G/A	snv	1.2E-05	3.5E-05	6
rs1243762658	TENM3	0.851	0.160	4	182754413	missense variant	C/A;G	snv	4.2E-06	7.0E-06	5
rs398123339	ABCA4	0.851	0.120	1	94113068	splice acceptor variant	T/C	snv	4.0E-06		5
rs755000701	TENM3	0.851	0.160	4	182799938	missense variant	C/T	snv	9.2E-06	1.4E-05	5