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rs80358302

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358302(-;-)
Make rs80358302(-;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position86951258
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358302
ebirs80358302
HLIrs80358302
Exacrs80358302
Varsomers80358302
Maprs80358302
PheGenIrs80358302
hapmaprs80358302
1000 genomesrs80358302
hgdprs80358302
ensemblrs80358302
gopubmedrs80358302
geneviewrs80358302
scholarrs80358302
googlers80358302
pharmgkbrs80358302
gwascentralrs80358302
openSNPrs80358302
23andMers80358302
23andMe allrs80358302
SNP Nexus

SNPshotrs80358302
SNPdbers80358302
MSV3drs80358302
GWAS Ctlgrs80358302
Max Magnitude0
ClinVar
Risk rs80358302(;)
Alt rs80358302(;)
Reference rs80358302(A;A)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86662300delT
CLNSRC
CLNACC


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