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rs80358289

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358289(A;A)
Make rs80358289(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position86952078
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358289
ebirs80358289
HLIrs80358289
Exacrs80358289
Varsomers80358289
Maprs80358289
PheGenIrs80358289
hapmaprs80358289
1000 genomesrs80358289
hgdprs80358289
ensemblrs80358289
gopubmedrs80358289
geneviewrs80358289
scholarrs80358289
googlers80358289
pharmgkbrs80358289
gwascentralrs80358289
openSNPrs80358289
23andMers80358289
23andMe allrs80358289
SNP Nexus

SNPshotrs80358289
SNPdbers80358289
MSV3drs80358289
GWAS Ctlgrs80358289
Max Magnitude0
ClinVar
Risk rs80358289(A;A)
Alt rs80358289(A;A)
Reference rs80358289(G;G)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86663120C>T
CLNSRC
CLNACC


[PMID 15346351OA-icon.png] Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.