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rs80358321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(ACA;ACA) 0 common in clinvar
Make rs80358321(-;-)
Make rs80358321(-;C)
Make rs80358321(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position68438453
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358321
ebirs80358321
HLIrs80358321
Exacrs80358321
Varsomers80358321
Maprs80358321
PheGenIrs80358321
hapmaprs80358321
1000 genomesrs80358321
hgdprs80358321
ensemblrs80358321
gopubmedrs80358321
geneviewrs80358321
scholarrs80358321
googlers80358321
pharmgkbrs80358321
gwascentralrs80358321
openSNPrs80358321
23andMers80358321
23andMe allrs80358321
SNP Nexus

SNPshotrs80358321
SNPdbers80358321
MSV3drs80358321
GWAS Ctlgrs80358321
Max Magnitude0
OMIM603506
Desc
Variant0021
Relatedalso
ClinVar
Risk rs80358321(C;C)
Alt rs80358321(C;C)
Reference rs80358321(ACA;ACA)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4, autosomal dominant
Reversed 0
HGVS NC_000011.9:g.68205921dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006668.2,


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