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rs80358306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358306(C;T)
Make rs80358306(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68357679
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358306
ebirs80358306
HLIrs80358306
Exacrs80358306
Varsomers80358306
Maprs80358306
PheGenIrs80358306
hapmaprs80358306
1000 genomesrs80358306
hgdprs80358306
ensemblrs80358306
gopubmedrs80358306
geneviewrs80358306
scholarrs80358306
googlers80358306
pharmgkbrs80358306
gwascentralrs80358306
openSNPrs80358306
23andMers80358306
23andMe allrs80358306
SNP Nexus

SNPshotrs80358306
SNPdbers80358306
MSV3drs80358306
GWAS Ctlgrs80358306
Max Magnitude0
ClinVar
Risk rs80358306(T;T)
Alt rs80358306(T;T)
Reference rs80358306(C;C)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4
Reversed 0
HGVS NC_000011.9:g.68125147C>T
CLNSRC
CLNACC


[PMID 15024691OA-icon.png] Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.