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rs80358288

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358288(C;C)
Make rs80358288(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position86952146
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358288
ebirs80358288
HLIrs80358288
Exacrs80358288
Varsomers80358288
Maprs80358288
PheGenIrs80358288
hapmaprs80358288
1000 genomesrs80358288
hgdprs80358288
ensemblrs80358288
gopubmedrs80358288
geneviewrs80358288
scholarrs80358288
googlers80358288
pharmgkbrs80358288
gwascentralrs80358288
openSNPrs80358288
23andMers80358288
23andMe allrs80358288
SNP Nexus

SNPshotrs80358288
SNPdbers80358288
MSV3drs80358288
GWAS Ctlgrs80358288
Max Magnitude0
ClinVar
Risk rs80358288(C;C)
Alt rs80358288(C;C)
Reference rs80358288(T;T)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86663188A>G
CLNSRC
CLNACC


[PMID 17093393] Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.