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rs80358322

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358322(G;G)
Make rs80358322(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68439918
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358322
ebirs80358322
HLIrs80358322
Exacrs80358322
Varsomers80358322
Maprs80358322
PheGenIrs80358322
hapmaprs80358322
1000 genomesrs80358322
hgdprs80358322
ensemblrs80358322
gopubmedrs80358322
geneviewrs80358322
scholarrs80358322
googlers80358322
pharmgkbrs80358322
gwascentralrs80358322
openSNPrs80358322
23andMers80358322
23andMe allrs80358322
SNP Nexus

SNPshotrs80358322
SNPdbers80358322
MSV3drs80358322
GWAS Ctlgrs80358322
Max Magnitude0
OMIM603506
Desc
Variant0020
Relatedalso
ClinVar
Risk rs80358322(G;G)
Alt rs80358322(G;G)
Reference rs80358322(T;T)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4, autosomal dominant
Reversed 0
HGVS NC_000011.9:g.68207386T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006667.2,


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