DisGeNET - a database of gene-disease associations

List of associated variants

Ocular Hypertension, C0028840

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
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs74315329	MYOC ; MYOCOS	0.732	0.240	1	171636338	stop gained	G/A	snv	1.1E-03	8.7E-04	15
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
rs7859156	LMX1B	0.851	0.040	9	126637749	intron variant	T/C	snv		0.74	4
rs2761884	BMP4	0.925	0.120	14	53954334	intron variant	G/T	snv		0.34	3
rs7854658	LMX1B	0.882	0.040	9	126652659	intron variant	G/A	snv		0.26	3
rs4986888	CYP1B1	0.925	0.040	2	38071026	missense variant	G/A;C	snv	4.4E-03		2