DisGeNET - a database of gene-disease associations

List of associated variants

Hypopigmentation disorder, C0162835

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
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs879255280	SMO	0.701	0.200	7	129206557	missense variant	C/T	snv			22
rs28940881	LOC107984363 ; TYR	0.776	0.200	11	89177954	start lost	A/G	snv	6.4E-05	5.6E-05	16
rs28940877	LOC107984363 ; TYR	0.807	0.200	11	89178218	missense variant	T/C	snv	4.0E-06	2.1E-05	9
rs376823382	LOC107984363 ; TYR	0.827	0.200	11	89284940	missense variant	A/G	snv	1.9E-04	2.2E-04	8
rs1559751245	MITF	0.882	0.280	3	69959280	missense variant	C/G	snv			6
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
rs387907217	KIT	0.882	0.120	4	54727907	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
rs61749455	ABCA4	0.882	0.080	1	94044692	stop gained	C/A;G;T	snv	5.6E-04; 4.0E-06		3
rs119473031	MLPH	0.882	0.320	2	237493529	missense variant	C/A;T	snv	2.4E-05		3
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