DisGeNET - a database of gene-disease associations

List of shared variants

Glaucoma, Primary Open Angle, C0339573

Disease: Glaucoma

Source: ALL

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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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv			24
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs121909194	MYOC ; MYOCOS	0.882	0.040	1	171636302	missense variant	C/G	snv			3
rs12377632	TLR4	0.827	0.120	9	117710452	intron variant	T/A;C	snv			5
rs199746824	MYOC	0.807	0.040	1	171652139	missense variant	C/G;T	snv	4.0E-06; 1.6E-05		6
rs200710076	OPTN	0.925	0.040	10	13109198	missense variant	C/A;G;T	snv	8.0E-06; 2.0E-05; 2.4E-05		2
rs2234927	MYOCOS ; MYOC	0.851	0.040	1	171638703	missense variant	G/A;C	snv	4.0E-06; 7.6E-04		4
rs267606929	OPTN	0.827	0.120	10	13132098	missense variant	A/G	snv			5
rs28939688	OPTN	0.807	0.040	10	13109270	missense variant	G/A	snv			7
rs33912345	C14orf39 ; SIX6	0.807	0.200	14	60509819	missense variant	C/A;G	snv	0.53		7
rs3766355	PTGFR	0.882	0.040	1	78491756	intron variant	C/A;T	snv			3
rs3825942	LOXL1 ; LOXL1-AS1	0.716	0.320	15	73927241	missense variant	G/A;C;T	snv	0.18; 4.5E-06		15
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs690037	RFTN1 ; OXNAD1	0.882	0.040	3	16354161	intron variant	C/G;T	snv			3
rs7081455		0.851	0.040	10	20349956	upstream gene variant	G/A;T	snv			4
rs74315328	MYOC ; MYOCOS	0.807	0.120	1	171636131	missense variant	A/G	snv			6
rs74315330	MYOCOS ; MYOC	0.776	0.080	1	171636331	missense variant	G/A	snv			9
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
rs74315336	MYOCOS ; MYOC	0.851	0.040	1	171636173	missense variant	T/C	snv			4
rs74315337	MYOC	0.925	0.040	1	171652476	stop gained	G/A;C;T	snv	7.2E-04; 4.0E-06; 4.0E-06		2
rs74315341	MYOC ; MYOCOS	0.851	0.040	1	171636686	missense variant	C/T	snv			4
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614