DisGeNET - a database of gene-disease associations

Retinal Dystrophies, C0854723

Variant: rs386834158 ×

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:

rs386834158

rs386834158

CEP290

C

0.700

CausalMutation

CLINVAR

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

2007