DisGeNET - a database of gene-disease associations

Amaurosis congenita of Leber, type 1, C2931258

Variant: rs62645748 ×

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:

rs62645748

rs62645748

CRB1

0.710

GeneticVariation

BEFREE

Analysis using the LCA chip revealed the p.Cys948Tyr mutation in CRB1 in heterozygous state.

2008

dbSNP:

rs62645748

rs62645748

CRB1

A

0.710

CausalMutation

CLINVAR