DisGeNET - a database of gene-disease associations

Leber Congenital Amaurosis, C0339527

Variant: rs62636275 ×

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs62636275

rs62636275

CRB1

0.710

GeneticVariation

BEFREE

A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

2006

dbSNP:

rs62636275

rs62636275

CRB1

A

0.710

CausalMutation

CLINVAR