DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs61754393, TYR;LOC107984363

N. diseases: 3

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Oculocutaneous albinism type 1A

CUI:	C4551504
Disease:	Oculocutaneous albinism type 1A

101

0.882

0.160

89284853

missense variant

G/A;T

snv

6.0E-05; 4.0E-06

0.700

1.000

1990

2014

ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)

CUI:	C1847024
Disease:	ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)

0.882

0.160

89284853

missense variant

G/A;T

snv

6.0E-05; 4.0E-06

0.700

1.000

1991

1999

ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE

CUI:	C1847132
Disease:	ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE

0.882

0.160

89284853

missense variant

G/A;T

snv

6.0E-05; 4.0E-06

0.700