DisGeNET - a database of gene-disease associations

List of shared variants

Glaucoma, Open-Angle, C0017612

Disease: Intraocular pressure disorder

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
rs1063192	CDKN2B ; CDKN2B-AS1	0.695	0.520	9	22003368	3 prime UTR variant	G/A;T	snv			24
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv		0.32	22
rs2157719	CDKN2B-AS1	0.708	0.360	9	22033367	non coding transcript exon variant	C/T	snv		0.71	17
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
rs79204362	CYP1B1	0.763	0.120	2	38071251	missense variant	C/T	snv	5.8E-03	1.7E-03	10
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
rs33912345	C14orf39 ; SIX6	0.807	0.200	14	60509819	missense variant	C/A;G	snv	0.53		7
rs523096	CDKN2B-AS1	0.827	0.080	9	22019130	intron variant	A/G	snv		0.30	7
rs199746824	MYOC	0.807	0.040	1	171652139	missense variant	C/G;T	snv	4.0E-06; 1.6E-05		6
rs2472493	LOC105376196	0.851	0.040	9	104933567	downstream gene variant	G/A	snv		0.61	5