DisGeNET - a database of gene-disease associations

List of associated variants

Glaucoma, C0017601

Source: ALL

Results per page

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs74315329	MYOC ; MYOCOS	0.732	0.240	1	171636338	stop gained	G/A	snv	1.1E-03	8.7E-04	15
rs74315330	MYOCOS ; MYOC	0.776	0.080	1	171636331	missense variant	G/A	snv			9
rs3753841	COL11A1	0.827	0.080	1	102914362	missense variant	G/A	snv	0.61	0.49	7
rs4656461		0.827	0.040	1	165717968	TF binding site variant	G/A	snv		0.85	7
rs199746824	MYOC	0.807	0.040	1	171652139	missense variant	C/G;T	snv	4.0E-06; 1.6E-05		6
rs566289099	MYOCOS ; MYOC	0.807	0.080	1	171636310	missense variant	G/A	snv	2.0E-05	3.5E-05	6
rs74315328	MYOC ; MYOCOS	0.807	0.120	1	171636131	missense variant	A/G	snv			6
rs74315339	MYOC	0.807	0.120	1	171652468	missense variant	C/A	snv	9.8E-04	1.3E-04	6
rs2234927	MYOCOS ; MYOC	0.851	0.040	1	171638703	missense variant	G/A;C	snv	4.0E-06; 7.6E-04		4
rs74315336	MYOCOS ; MYOC	0.851	0.040	1	171636173	missense variant	T/C	snv			4
rs74315341	MYOC ; MYOCOS	0.851	0.040	1	171636686	missense variant	C/T	snv			4
rs7518099	TMCO1-AS1 ; TMCO1	0.925	0.040	1	165767643	intron variant	C/T	snv		0.89	4
rs7555523	TMCO1	0.925	0.040	1	165749742	intron variant	C/A	snv		0.88	4
rs121909194	MYOC ; MYOCOS	0.882	0.040	1	171636302	missense variant	C/G	snv			3
rs2234926	MYOC	0.882	0.040	1	171652385	missense variant	C/T	snv	0.15	0.11	3
rs3766355	PTGFR	0.882	0.040	1	78491756	intron variant	C/A;T	snv			3
rs547984		0.882	0.040	1	237933586	intergenic variant	A/C	snv		0.60	3
rs74315331	MYOC ; MYOCOS	0.882	0.040	1	171636010	missense variant	A/C;T	snv			3
rs74315332	MYOCOS ; MYOC	0.882	0.040	1	171636000	missense variant	G/T	snv			3
rs10918274	TMCO1	1.000	0.040	1	165745179	intron variant	T/C	snv		0.89	2
rs121909193	MYOCOS ; MYOC	0.925	0.040	1	171636349	missense variant	C/A	snv			2
rs140967767	MYOCOS ; MYOC	0.925	0.040	1	171636106	missense variant	G/A	snv	1.9E-04	3.4E-04	2