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rs80358293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358293(A;G)
Make rs80358293(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position86951732
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358293
ebirs80358293
HLIrs80358293
Exacrs80358293
Varsomers80358293
Maprs80358293
PheGenIrs80358293
hapmaprs80358293
1000 genomesrs80358293
hgdprs80358293
ensemblrs80358293
gopubmedrs80358293
geneviewrs80358293
scholarrs80358293
googlers80358293
pharmgkbrs80358293
gwascentralrs80358293
openSNPrs80358293
23andMers80358293
23andMe allrs80358293
SNP Nexus

SNPshotrs80358293
SNPdbers80358293
MSV3drs80358293
GWAS Ctlgrs80358293
GMAF0.0004591
Max Magnitude0
OMIM604579
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80358293(G;G)
Alt rs80358293(G;G)
Reference rs80358293(A;A)
Significance Pathogenic
Disease Exudative vitreoretinopathy 1
Variation info
Gene PRSS23 FZD4
CLNDBN Exudative vitreoretinopathy 1
Reversed 1
HGVS NC_000011.9:g.86662774T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005822.2,


[PMID 15488808] Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.


[PMID 15981244] Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.