DisGeNET - a database of gene-disease associations

List of associated variants

Intraocular pressure disorder, C0595921

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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
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
rs1761667	CD36	0.752	0.320	7	80615623	intron variant	G/A	snv		0.49	12
rs7830	NOS3 ; ATG9B	0.763	0.320	7	151012483	3 prime UTR variant	G/T	snv	0.38	0.32	11
rs79204362	CYP1B1	0.763	0.120	2	38071251	missense variant	C/T	snv	5.8E-03	1.7E-03	10
rs3918188	NOS3	0.776	0.280	7	151005693	intron variant	C/A;T	snv			10
rs8176693	ABO	0.851	0.160	9	133262254	intron variant	C/T	snv		9.9E-02	9
rs74315330	MYOCOS ; MYOC	0.776	0.080	1	171636331	missense variant	G/A	snv			9
rs1135840	NDUFA6-DT ; CYP2D6	0.807	0.200	22	42126611	missense variant	C/G	snv		0.58	8
rs11771443	NOS3	0.790	0.360	7	150990599	upstream gene variant	C/T	snv		0.16	8
rs33912345	C14orf39 ; SIX6	0.807	0.200	14	60509819	missense variant	C/A;G	snv	0.53		7
rs1049673	CD36	0.807	0.160	7	80677034	3 prime UTR variant	C/G;T	snv			7
rs10120688	CDKN2B-AS1	0.807	0.080	9	22056500	intron variant	G/A	snv		0.50	7
rs523096	CDKN2B-AS1	0.827	0.080	9	22019130	intron variant	A/G	snv		0.30	7
rs28939688	OPTN	0.807	0.040	10	13109270	missense variant	G/A	snv			7
rs199746824	MYOC	0.807	0.040	1	171652139	missense variant	C/G;T	snv	4.0E-06; 1.6E-05		6
rs74315328	MYOC ; MYOCOS	0.807	0.120	1	171636131	missense variant	A/G	snv			6
rs566289099	MYOCOS ; MYOC	0.807	0.080	1	171636310	missense variant	G/A	snv	2.0E-05	3.5E-05	6