DisGeNET - a database of gene-disease associations

Vitelliform Macular Dystrophy, C0339510

Variant: rs886039311 ×

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:

rs886039311

rs886039311

BEST1 ; LOC107984334

0.710

GeneticVariation

BEFREE

Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.

2009

dbSNP:

rs886039311

rs886039311

BEST1 ; LOC107984334

A

0.710

CausalMutation

CLINVAR

dbSNP:

rs886039311

rs886039311

BEST1 ; LOC107984334

C

0.710

GeneticVariation

CLINVAR