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rs80358281

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358281(A;A)
Make rs80358281(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position86954979
GeneFZD4, LOC100506368
is asnp
is mentioned by
dbSNPrs80358281
dbSNP (old)rs80358281
ClinGenrs80358281
ebirs80358281
HLIrs80358281
Exacrs80358281
Gnomadrs80358281
Varsomers80358281
Maprs80358281
PheGenIrs80358281
Biobankrs80358281
1000 genomesrs80358281
hgdprs80358281
ensemblrs80358281
gopubmedrs80358281
geneviewrs80358281
scholarrs80358281
googlers80358281
pharmgkbrs80358281
gwascentralrs80358281
openSNPrs80358281
23andMers80358281
23andMe allrs80358281
SNP Nexus

SNPshotrs80358281
SNPdbers80358281
MSV3drs80358281
GWAS Ctlgrs80358281
Max Magnitude0
ClinVar
Risk rs80358281(A;A)
Alt rs80358281(A;A)
Reference Rs80358281(G;G)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4 LOC100506368
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86666021C>T
CLNSRC
CLNACC


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