DisGeNET - a database of gene-disease associations

List of associated variants

Albinism, C0001916

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
rs1126809	LOC107984363 ; TYR	0.683	0.320	11	89284793	missense variant	G/A	snv	0.18	0.18	29
rs28940881	LOC107984363 ; TYR	0.776	0.200	11	89177954	start lost	A/G	snv	6.4E-05	5.6E-05	16
rs1057520005	TP53	0.742	0.360	17	7673800	missense variant	C/A;G	snv			14
rs1800407	OCA2	0.807	0.200	15	27985172	missense variant	C/T	snv	4.7E-02	4.9E-02	10
rs28940877	LOC107984363 ; TYR	0.807	0.200	11	89178218	missense variant	T/C	snv	4.0E-06	2.1E-05	9
rs104894314	LOC107984363 ; TYR	0.790	0.160	11	89191205	missense variant	G/A;T	snv	8.0E-06; 9.2E-05		8
rs376823382	LOC107984363 ; TYR	0.827	0.200	11	89284940	missense variant	A/G	snv	1.9E-04	2.2E-04	8
rs61754381	LOC107984363 ; TYR	0.790	0.200	11	89227816	splice region variant	T/A;C	snv	9.5E-04; 8.0E-06		8
rs62645904	LOC107984363 ; TYR	0.827	0.160	11	89191214	stop gained	C/A;T	snv	1.9E-04		8
rs61753253	LOC107984363 ; TYR	0.925	0.160	11	89178278	missense variant	G/A	snv	5.2E-05	8.4E-05	7
rs104894313	TYR ; LOC107984363	0.807	0.160	11	89284805	missense variant	C/T	snv	3.8E-03; 4.0E-06	3.7E-03	7
rs121908011	TYR ; LOC107984363	0.827	0.160	11	89227933	missense variant	G/A	snv	9.2E-05	3.5E-05	6
rs61754388	TYR ; LOC107984363	0.827	0.160	11	89227904	missense variant	C/A	snv	3.4E-04	5.0E-04	6
rs141949212	OCA2	0.882	0.160	15	27845052	missense variant	C/T	snv	4.0E-05	2.0E-04	5
rs28940876	TYR ; LOC107984363	0.827	0.160	11	89178195	missense variant	C/T	snv	8.4E-05	1.7E-04	5
rs61753185	LOC107984363 ; TYR	0.882	0.160	11	89178183	missense variant	G/A	snv	8.4E-05	5.6E-05	3
rs104894130	TYRP1	0.925	0.160	9	12695626	stop gained	C/G	snv	6.0E-05	2.1E-04	3
rs62635045	GPR143 ; LOC105373126	0.925	0.160	X	9741349	missense variant	A/C	snv			2
rs140365820	LURAP1L-AS1 ; TYRP1	0.925	0.160	9	12704706	splice donor variant	G/A	snv	5.6E-05	2.0E-04	2
rs144812594	OCA2	0.925	0.160	15	27986615	missense variant	G/A	snv	6.4E-05	2.3E-04	2
rs387906560	TYRP1 ; LURAP1L-AS1	0.925	0.160	9	12704545	frameshift variant	A/-	delins			2
rs62635042	LOC105373126 ; GPR143	1.000	0.160	X	9741444	missense variant	T/A;C	snv			1
rs748527966	MITF	1.000	0.160	3	69965154	missense variant	C/T	snv	1.2E-05	7.0E-06	1
rs1384042381	OCA2	1.000	0.160	15	27957712	missense variant	A/G	snv		7.0E-06	1
rs142931246	OCA2	1.000	0.160	15	28014795	missense variant	T/C;G	snv	2.5E-04		1