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rs80358301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTGGAT;GTGGAT) 0 common in clinvar
Make rs80358301(-;-)
Make rs80358301(-;GTGGAT)
ReferenceGRCh38 38.1/141
Chromosome11
Position86951272
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358301
ebirs80358301
HLIrs80358301
Exacrs80358301
Varsomers80358301
Maprs80358301
PheGenIrs80358301
hapmaprs80358301
1000 genomesrs80358301
hgdprs80358301
ensemblrs80358301
gopubmedrs80358301
geneviewrs80358301
scholarrs80358301
googlers80358301
pharmgkbrs80358301
gwascentralrs80358301
openSNPrs80358301
23andMers80358301
23andMe allrs80358301
SNP Nexus

SNPshotrs80358301
SNPdbers80358301
MSV3drs80358301
GWAS Ctlgrs80358301
Max Magnitude0
OMIM604579
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80358301(;)
Alt rs80358301(;)
Reference rs80358301(GTGGAT;GTGGAT)
Significance Pathogenic
Disease Exudative vitreoretinopathy 1
Variation info
Gene PRSS23 FZD4
CLNDBN Exudative vitreoretinopathy 1
Reversed 1
HGVS NC_000011.9:g.86662314_86662319delATCCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005818.2,


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