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rs80358291

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358291(A;A)
Make rs80358291(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position86951799
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358291
ebirs80358291
HLIrs80358291
Exacrs80358291
Varsomers80358291
Maprs80358291
PheGenIrs80358291
hapmaprs80358291
1000 genomesrs80358291
hgdprs80358291
ensemblrs80358291
gopubmedrs80358291
geneviewrs80358291
scholarrs80358291
googlers80358291
pharmgkbrs80358291
gwascentralrs80358291
openSNPrs80358291
23andMers80358291
23andMe allrs80358291
SNP Nexus

SNPshotrs80358291
SNPdbers80358291
MSV3drs80358291
GWAS Ctlgrs80358291
Max Magnitude0
ClinVar
Risk rs80358291(A;A)
Alt rs80358291(A;A)
Reference rs80358291(G;G)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86662841C>T
CLNSRC
CLNACC


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