DisGeNET - a database of gene-disease associations

List of associated variants

Glaucoma, Open-Angle, C0017612

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
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs243865	MMP2	0.600	0.640	16	55477894	intron variant	C/T	snv		0.19	48
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs1927911	TLR4	0.658	0.640	9	117707776	intron variant	A/G	snv		0.62	28
rs4977574	CDKN2B-AS1	0.695	0.520	9	22098575	intron variant	A/G;T	snv			26
rs4977756	CDKN2B-AS1	0.683	0.440	9	22068653	intron variant	G/A	snv		0.64	24
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv			24
rs2383207	CDKN2B-AS1	0.695	0.280	9	22115960	intron variant	A/G	snv		0.64	22
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv		0.32	22
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	17
rs2151280	CDKN2B-AS1	0.701	0.360	9	22034720	non coding transcript exon variant	G/A	snv		0.46	16
rs7137828	ATXN2	0.763	0.200	12	111494996	intron variant	C/A;T	snv			15
rs1333040	CDKN2B-AS1	0.732	0.280	9	22083405	intron variant	C/G;T	snv			15
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
rs1412829	CDKN2B-AS1	0.742	0.400	9	22043927	intron variant	A/G	snv		0.28	14
rs1048661	LOXL1-AS1 ; LOXL1	0.732	0.320	15	73927205	missense variant	G/T	snv	0.33	0.28	14
rs7865618	CDKN2B-AS1	0.776	0.240	9	22031006	non coding transcript exon variant	G/A;T	snv			11
rs79204362	CYP1B1	0.763	0.120	2	38071251	missense variant	C/T	snv	5.8E-03	1.7E-03	10