DisGeNET - a database of gene-disease associations

List of associated variants

ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT, C1876214

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
rs74653330	OCA2	0.851	0.200	15	27983407	missense variant	C/T	snv	8.4E-03	6.2E-03	5
rs1057517718	CLCN7	0.882	0.160	16	1447498	missense variant	T/C	snv			4
rs1800414	OCA2	0.851	0.200	15	27951891	missense variant	T/A;C	snv	4.0E-06; 4.5E-02		4
rs965705838	MITF	0.925	0.160	3	69939113	missense variant	G/A	snv			2
rs1477692170	POMC	0.925	0.160	2	25161686	stop gained	C/A;G;T	snv	1.1E-05		2
rs917202708	POMC	0.925	0.160	2	25161716	missense variant	C/G;T	snv			2