DisGeNET - a database of gene-disease associations

List of associated variants

ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder), C1847024

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
rs104894314	LOC107984363 ; TYR	0.790	0.160	11	89191205	missense variant	G/A;T	snv	8.0E-06; 9.2E-05		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
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
rs28940879	LOC107984363 ; TYR	0.851	0.160	11	89178117	missense variant	G/A;C	snv	4.0E-06		5
rs28940876	TYR ; LOC107984363	0.827	0.160	11	89178195	missense variant	C/T	snv	8.4E-05	1.7E-04	5
rs61753180	LOC107984363 ; TYR	0.882	0.160	11	89178093	missense variant	G/A	snv	1.6E-04	2.8E-04	4
rs62645916	LOC107984363 ; TYR	0.882	0.160	11	89284787	stop gained	G/A;T	snv	3.6E-05		4
rs61753256	TYR ; LOC107984363	0.882	0.160	11	89178299	stop gained	C/A;T	snv	4.0E-06; 2.4E-05		4
rs63159160	TYR ; LOC107984363	0.882	0.160	11	89178602	missense variant	C/G;T	snv	4.0E-06; 1.8E-04		4
rs61753185	LOC107984363 ; TYR	0.882	0.160	11	89178183	missense variant	G/A	snv	8.4E-05	5.6E-05	3
rs61754393	TYR ; LOC107984363	0.882	0.160	11	89284853	missense variant	G/A;T	snv	6.0E-05; 4.0E-06		3
rs773970123	TYR ; LOC107984363	0.925	0.160	11	89227823	missense variant	G/A;T	snv	1.2E-05; 8.0E-06		3
rs757754120	LOC107984363 ; TYR	0.925	0.160	11	89191262	missense variant	G/A	snv	2.8E-05	1.4E-05	2
rs104894316	TYR ; LOC107984363	0.925	0.160	11	89284797	missense variant	G/A;T	snv	4.0E-06; 3.6E-05		2
rs367543066	TYR ; LOC107984363	0.925	0.160	11	89178504	stop gained	C/G;T	snv	4.0E-06		2
rs145513733	LOC107984363 ; TYR	1.000	0.160	11	89178407	missense variant	C/T	snv	3.5E-04	2.3E-04	1
rs61754379	TYR ; LOC107984363	1.000	0.160	11	89191355	missense variant	A/G	snv			1
rs61754391	TYR ; LOC107984363	1.000	0.160	11	89227924	missense variant	T/C	snv			1
rs62645914	TYR ; LOC107984363	1.000	0.160	11	89227954	missense variant	C/G	snv	4.0E-06		1