DisGeNET - a database of gene-disease associations

ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder), C1847024

Variant: rs121908011 ×

Source: ALL

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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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908011

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type.

21985232

2012

dbSNP:

rs121908011

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

Mutational mapping of the catalytic activities of human tyrosinase.

1429711

1992

dbSNP:

rs121908011

TYR ; LOC107984363

0.700

CausalMutation

CLINVAR

Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.

2342539

1990