DisGeNET - a database of gene-disease associations

List of associated variants

Albinism, Ocular, C0078917

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
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
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
rs1057518787	GPR143	0.925	0.200	X	9765782	frameshift variant	CAGCAGAAGGTCCCTAGGCGCGGGG/-	delins			3
rs1376096651	MITF	0.882	0.280	3	69964977	missense variant	A/G;T	snv			3
rs1057518763	TYR ; LOC107984363	1.000	0.160	11	89178026	frameshift variant	-/T	delins		7.0E-06	1
rs1057518841	TYRP1	1.000	0.160	9	12695799	missense variant	C/T	snv			1
rs771055145	TYRP1 ; LURAP1L-AS1	1.000	0.160	9	12704577	missense variant	A/G	snv	2.0E-05	7.0E-06	1