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rs80358290

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358290(-;-)
Make rs80358290(-;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position86951799
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358290
ebirs80358290
HLIrs80358290
Exacrs80358290
Varsomers80358290
Maprs80358290
PheGenIrs80358290
hapmaprs80358290
1000 genomesrs80358290
hgdprs80358290
ensemblrs80358290
gopubmedrs80358290
geneviewrs80358290
scholarrs80358290
googlers80358290
pharmgkbrs80358290
gwascentralrs80358290
openSNPrs80358290
23andMers80358290
23andMe allrs80358290
SNP Nexus

SNPshotrs80358290
SNPdbers80358290
MSV3drs80358290
GWAS Ctlgrs80358290
Max Magnitude0
ClinVar
Risk rs80358290(;)
Alt rs80358290(;)
Reference rs80358290(G;G)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86662841delC
CLNSRC
CLNACC


[PMID 15223780] Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.