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rs80358305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358305(C;T)
Make rs80358305(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68348188
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358305
ebirs80358305
HLIrs80358305
Exacrs80358305
Varsomers80358305
Maprs80358305
PheGenIrs80358305
hapmaprs80358305
1000 genomesrs80358305
hgdprs80358305
ensemblrs80358305
gopubmedrs80358305
geneviewrs80358305
scholarrs80358305
googlers80358305
pharmgkbrs80358305
gwascentralrs80358305
openSNPrs80358305
23andMers80358305
23andMe allrs80358305
SNP Nexus

SNPshotrs80358305
SNPdbers80358305
MSV3drs80358305
GWAS Ctlgrs80358305
Max Magnitude0
OMIM603506
Desc
Variant0025
Relatedalso
ClinVar
Risk rs80358305(T;T)
Alt rs80358305(T;T)
Reference rs80358305(C;C)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4 Osteoporosis with pseudoglioma
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4, autosomal dominant Osteoporosis with pseudoglioma
Reversed 0
HGVS NC_000011.9:g.68115656C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006672.3, RCV000033256.4,


[PMID 15981244] Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.