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rs80358285

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358285(C;C)
Make rs80358285(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position86952442
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358285
ebirs80358285
HLIrs80358285
Exacrs80358285
Varsomers80358285
Maprs80358285
PheGenIrs80358285
hapmaprs80358285
1000 genomesrs80358285
hgdprs80358285
ensemblrs80358285
gopubmedrs80358285
geneviewrs80358285
scholarrs80358285
googlers80358285
pharmgkbrs80358285
gwascentralrs80358285
openSNPrs80358285
23andMers80358285
23andMe allrs80358285
SNP Nexus

SNPshotrs80358285
SNPdbers80358285
MSV3drs80358285
GWAS Ctlgrs80358285
Max Magnitude0
ClinVar
Risk rs80358285(C;C)
Alt rs80358285(C;C)
Reference rs80358285(T;T)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86663484A>G
CLNSRC
CLNACC


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