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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv			24
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	17
rs2165241	LOXL1-AS1 ; LOXL1	0.716	0.360	15	73929861	intron variant	T/C	snv		0.60	15
rs3825942	LOXL1 ; LOXL1-AS1	0.716	0.320	15	73927241	missense variant	G/A;C;T	snv	0.18; 4.5E-06		15
rs74315329	MYOC ; MYOCOS	0.732	0.240	1	171636338	stop gained	G/A	snv	1.1E-03	8.7E-04	15
rs1048661	LOXL1-AS1 ; LOXL1	0.732	0.320	15	73927205	missense variant	G/T	snv	0.33	0.28	14
rs2149356	TLR4	0.742	0.360	9	117711921	intron variant	T/G	snv		0.54	14
rs11258194	OPTN	0.776	0.160	10	13110400	missense variant	T/A	snv	4.4E-02	6.0E-02	9
rs1256031	ESR2	0.790	0.200	14	64279461	intron variant	G/A;T	snv		0.57	9
rs74315330	MYOCOS ; MYOC	0.776	0.080	1	171636331	missense variant	G/A	snv			9
rs10120688	CDKN2B-AS1	0.807	0.080	9	22056500	intron variant	G/A	snv		0.50	7
rs2567206	CYP1B1 ; CYP1B1-AS1	0.827	0.200	2	38076389	non coding transcript exon variant	G/A	snv		0.23	7
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
rs4656461		0.827	0.040	1	165717968	TF binding site variant	G/A	snv		0.85	7
rs523096	CDKN2B-AS1	0.827	0.080	9	22019130	intron variant	A/G	snv		0.30	7
rs7049105	CDKN2B-AS1	0.807	0.120	9	22028802	intron variant	A/G	snv		0.58	7
rs199746824	MYOC	0.807	0.040	1	171652139	missense variant	C/G;T	snv	4.0E-06; 1.6E-05		6