DisGeNET - a database of gene-disease associations

List of associated variants

Coloboma of optic disc, C0155299

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
rs80338701	PMM2	0.776	0.360	16	8811088	stop gained	C/A;T	snv	4.4E-05; 5.4E-06		14
rs121907922	ELP4 ; PAX6	0.742	0.320	11	31789935	stop gained	T/A	snv			12
rs190521996	PMM2	0.790	0.320	16	8811660	missense variant	T/C	snv	2.9E-04	4.1E-04	12
rs793888540	TFAP2A-AS2 ; TFAP2A	0.851	0.080	6	10404623	missense variant	G/T	snv			9
rs886041222	PAX6	0.776	0.280	11	31793787	stop gained	G/A	snv			8
rs793888541	TFAP2A-AS2 ; TFAP2A	0.807	0.120	6	10404631	missense variant	A/T	snv			7
rs121908403	SPINT2	0.827	0.200	19	38290215	missense variant	A/G	snv	2.1E-04	1.4E-04	5
rs121907925	PAX6	0.882	0.080	11	31793795	missense variant	A/G	snv			3
rs886037758	KIF26B ; LOC105373265	1.000	0.080	1	245688126	frameshift variant	ACCTCGCCCCCCAGCTCCGGGG/-	delins			2
rs886037754	PAX2	1.000	0.080	10	100749819	frameshift variant	GC/-	delins			2
rs886037755	PAX2	1.000	0.080	10	100749889	missense variant	G/A	snv			2
rs886037756	PAX2	1.000	0.080	10	100749759	frameshift variant	-/GTGAACC	delins			2
rs886037757	PAX2	1.000	0.080	10	100750703	frameshift variant	-/AC	delins			2
rs121907923	PAX6	1.000	0.080	11	31801716	missense variant	G/A	snv			1