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rs80358286

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358286(A;G)
Make rs80358286(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position86952287
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358286
ebirs80358286
HLIrs80358286
Exacrs80358286
Varsomers80358286
Maprs80358286
PheGenIrs80358286
hapmaprs80358286
1000 genomesrs80358286
hgdprs80358286
ensemblrs80358286
gopubmedrs80358286
geneviewrs80358286
scholarrs80358286
googlers80358286
pharmgkbrs80358286
gwascentralrs80358286
openSNPrs80358286
23andMers80358286
23andMe allrs80358286
SNP Nexus

SNPshotrs80358286
SNPdbers80358286
MSV3drs80358286
GWAS Ctlgrs80358286
Max Magnitude0
ClinVar
Risk rs80358286(G;G)
Alt rs80358286(G;G)
Reference rs80358286(A;A)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86663329T>C
CLNSRC
CLNACC


[PMID 15035989] Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.


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