DisGeNET - a database of gene-disease associations

List of associated variants

ALBINISM, OCULOCUTANEOUS, TYPE III, C0342683

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
rs104894130	TYRP1	0.925	0.160	9	12695626	stop gained	C/G	snv	6.0E-05	2.1E-04	3
rs140365820	LURAP1L-AS1 ; TYRP1	0.925	0.160	9	12704706	splice donor variant	G/A	snv	5.6E-05	2.0E-04	2
rs281865424	LURAP1L-AS1 ; TYRP1	0.925	0.160	9	12702424	missense variant	G/A;T	snv	2.8E-05		2
rs387906560	TYRP1 ; LURAP1L-AS1	0.925	0.160	9	12704545	frameshift variant	A/-	delins			2
rs387906562	LURAP1L-AS1 ; TYRP1	1.000	0.160	9	12702411	frameshift variant	AACA/-	delins			1
rs387906561	TYRP1	1.000	0.160	9	12694101	frameshift variant	T/-	delins			1
rs61758405	TYRP1	1.000	0.160	9	12694066	missense variant	G/A	snv	1.9E-03	1.7E-03	1
rs121912778	TYRP1 ; LURAP1L-AS1	1.000	0.160	9	12704564	stop gained	C/T	snv	2.8E-05	6.3E-05	1
rs776174514	TYRP1 ; LURAP1L-AS1	1.000	0.160	9	12704589	missense variant	T/C	snv	4.0E-06		1