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rs80358294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358294(C;C)
Make rs80358294(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position86951506
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358294
ebirs80358294
HLIrs80358294
Exacrs80358294
Varsomers80358294
Maprs80358294
PheGenIrs80358294
hapmaprs80358294
1000 genomesrs80358294
hgdprs80358294
ensemblrs80358294
gopubmedrs80358294
geneviewrs80358294
scholarrs80358294
googlers80358294
pharmgkbrs80358294
gwascentralrs80358294
openSNPrs80358294
23andMers80358294
23andMe allrs80358294
SNP Nexus

SNPshotrs80358294
SNPdbers80358294
MSV3drs80358294
GWAS Ctlgrs80358294
Max Magnitude0
OMIM604579
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80358294(A,C;A,C)
Alt rs80358294(A,C;A,C)
Reference rs80358294(G;G)
Significance Pathogenic
Disease Exudative vitreoretinopathy 1 Exudative vitreoretinopathy
Variation info
Gene PRSS23 FZD4
CLNDBN Exudative vitreoretinopathy 1 Exudative vitreoretinopathy, digenic
Reversed 1
HGVS NC_000011.9:g.86662548C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005820.2, RCV000005821.2,


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