DisGeNET - a database of gene-disease associations

List of associated variants

Hydrophthalmos, C0020302

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
rs79204362	CYP1B1	0.763	0.120	2	38071251	missense variant	C/T	snv	5.8E-03	1.7E-03	10
rs28936700	CYP1B1 ; CYP1B1-AS1	0.776	0.120	2	38075207	missense variant	C/G;T	snv	5.0E-06; 3.2E-04		9
rs74315330	MYOCOS ; MYOC	0.776	0.080	1	171636331	missense variant	G/A	snv			9
rs1221648356	CYP1B1	0.851	0.080	2	38071245	frameshift variant	G/-	delins			4
rs745378110	CYP1B1	0.851	0.080	2	38071247	frameshift variant	C/-	del			4
rs780002791	CYP1B1 ; CYP1B1-AS1	0.882	0.080	2	38075306	missense variant	G/C	snv	2.5E-05	4.2E-05	3
rs72549381	CYP1B1	0.925	0.080	2	38071291	stop gained	G/A	snv	1.2E-05	2.8E-05	2
rs1410349925	PXDN	0.925	0.080	2	1648284	missense variant	C/T	snv	4.0E-06		2
rs1407030489	LTBP2	1.000	0.080	14	74552981	missense variant	T/C	snv	4.0E-06		1
rs886059596	SLC4A4	1.000	0.080	4	71451214	missense variant	A/G	snv	4.0E-06		1
rs367975354	TULP2	1.000	0.080	19	48884005	missense variant	C/T	snv	3.5E-04	4.2E-05	1