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rs80358304

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358304(C;T)
Make rs80358304(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position86951243
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358304
ebirs80358304
HLIrs80358304
Exacrs80358304
Varsomers80358304
Maprs80358304
PheGenIrs80358304
hapmaprs80358304
1000 genomesrs80358304
hgdprs80358304
ensemblrs80358304
gopubmedrs80358304
geneviewrs80358304
scholarrs80358304
googlers80358304
pharmgkbrs80358304
gwascentralrs80358304
openSNPrs80358304
23andMers80358304
23andMe allrs80358304
SNP Nexus

SNPshotrs80358304
SNPdbers80358304
MSV3drs80358304
GWAS Ctlgrs80358304
Max Magnitude0
ClinVar
Risk rs80358304(T;T)
Alt rs80358304(T;T)
Reference rs80358304(C;C)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86662285G>A
CLNSRC
CLNACC


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