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rs80358287

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358287(C;C)
Make rs80358287(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position86952215
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358287
ebirs80358287
HLIrs80358287
Exacrs80358287
Varsomers80358287
Maprs80358287
PheGenIrs80358287
hapmaprs80358287
1000 genomesrs80358287
hgdprs80358287
ensemblrs80358287
gopubmedrs80358287
geneviewrs80358287
scholarrs80358287
googlers80358287
pharmgkbrs80358287
gwascentralrs80358287
openSNPrs80358287
23andMers80358287
23andMe allrs80358287
SNP Nexus

SNPshotrs80358287
SNPdbers80358287
MSV3drs80358287
GWAS Ctlgrs80358287
Max Magnitude0
ClinVar
Risk rs80358287(C;C)
Alt rs80358287(C;C)
Reference rs80358287(T;T)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86663257A>G
CLNSRC
CLNACC


[PMID 15370539] Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).