Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358300

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358300(C;T)
Make rs80358300(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position86951266
GeneFZD4
is asnp
is mentioned by
dbSNPrs80358300
ebirs80358300
HLIrs80358300
Exacrs80358300
Varsomers80358300
Maprs80358300
PheGenIrs80358300
hapmaprs80358300
1000 genomesrs80358300
hgdprs80358300
ensemblrs80358300
gopubmedrs80358300
geneviewrs80358300
scholarrs80358300
googlers80358300
pharmgkbrs80358300
gwascentralrs80358300
openSNPrs80358300
23andMers80358300
23andMe allrs80358300
SNP Nexus

SNPshotrs80358300
SNPdbers80358300
MSV3drs80358300
GWAS Ctlgrs80358300
Max Magnitude0
ClinVar
Risk rs80358300(T;T)
Alt rs80358300(T;T)
Reference rs80358300(C;C)
Significance Pathogenic
Disease Familial exudative vitreoretinopathy
Variation info
Gene FZD4
CLNDBN Familial exudative vitreoretinopathy
Reversed 1
HGVS NC_000011.9:g.86662308G>A
CLNSRC
CLNACC


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