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rs80358298

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358298(A;A)
Make rs80358298(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position86951293
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358298
ebirs80358298
HLIrs80358298
Exacrs80358298
Varsomers80358298
Maprs80358298
PheGenIrs80358298
hapmaprs80358298
1000 genomesrs80358298
hgdprs80358298
ensemblrs80358298
gopubmedrs80358298
geneviewrs80358298
scholarrs80358298
googlers80358298
pharmgkbrs80358298
gwascentralrs80358298
openSNPrs80358298
23andMers80358298
23andMe allrs80358298
SNP Nexus

SNPshotrs80358298
SNPdbers80358298
MSV3drs80358298
GWAS Ctlgrs80358298
Max Magnitude0
ClinVar
Risk rs80358298(A;A)
Alt rs80358298(A;A)
Reference rs80358298(G;G)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86662335C>T
CLNSRC
CLNACC


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