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rs80358308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358308(C;T)
Make rs80358308(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68386630
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358308
ebirs80358308
HLIrs80358308
Exacrs80358308
Varsomers80358308
Maprs80358308
PheGenIrs80358308
hapmaprs80358308
1000 genomesrs80358308
hgdprs80358308
ensemblrs80358308
gopubmedrs80358308
geneviewrs80358308
scholarrs80358308
googlers80358308
pharmgkbrs80358308
gwascentralrs80358308
openSNPrs80358308
23andMers80358308
23andMe allrs80358308
SNP Nexus

SNPshotrs80358308
SNPdbers80358308
MSV3drs80358308
GWAS Ctlgrs80358308
Max Magnitude0
OMIM603506
Desc
Variant0026
Relatedalso
ClinVar
Risk rs80358308(T;T)
Alt rs80358308(T;T)
Reference rs80358308(C;C)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4, digenic
Reversed 0
HGVS NC_000011.9:g.68154098C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006673.3,


[PMID 14507768OA-icon.png] Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.


[PMID 15981244] Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.