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rs80358303

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs80358303(-;-)
Make rs80358303(-;CT)
ReferenceGRCh38 38.1/141
Chromosome11
Position86951254
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358303
ebirs80358303
HLIrs80358303
Exacrs80358303
Varsomers80358303
Maprs80358303
PheGenIrs80358303
hapmaprs80358303
1000 genomesrs80358303
hgdprs80358303
ensemblrs80358303
gopubmedrs80358303
geneviewrs80358303
scholarrs80358303
googlers80358303
pharmgkbrs80358303
gwascentralrs80358303
openSNPrs80358303
23andMers80358303
23andMe allrs80358303
SNP Nexus

SNPshotrs80358303
SNPdbers80358303
MSV3drs80358303
GWAS Ctlgrs80358303
Max Magnitude0
OMIM604579
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80358303(;)
Alt rs80358303(;)
Reference rs80358303(CT;CT)
Significance Pathogenic
Disease Exudative vitreoretinopathy 1
Variation info
Gene PRSS23 FZD4
CLNDBN Exudative vitreoretinopathy 1
Reversed 1
HGVS NC_000011.9:g.86662296_86662297delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005819.2,


[PMID 12172548] Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.


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