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rs80358284

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358284(A;G)
Make rs80358284(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position86952443
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358284
ebirs80358284
HLIrs80358284
Exacrs80358284
Varsomers80358284
Maprs80358284
PheGenIrs80358284
hapmaprs80358284
1000 genomesrs80358284
hgdprs80358284
ensemblrs80358284
gopubmedrs80358284
geneviewrs80358284
scholarrs80358284
googlers80358284
pharmgkbrs80358284
gwascentralrs80358284
openSNPrs80358284
23andMers80358284
23andMe allrs80358284
SNP Nexus

SNPshotrs80358284
SNPdbers80358284
MSV3drs80358284
GWAS Ctlgrs80358284
Max Magnitude0
ClinVar
Risk rs80358284(G,T;G,T)
Alt rs80358284(G,T;G,T)
Reference rs80358284(A;A)
Significance Pathogenic
Disease Exudative retinopathy Familial exudative vitreoretinopathy
Variation info
Gene PRSS23 FZD4
CLNDBN Exudative retinopathy Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86663485T>C
CLNSRC
CLNACC RCV000210241.1,


[PMID 14507768OA-icon.png] Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.


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