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rs80358313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358313(A;A)
Make rs80358313(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68406550
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358313
ebirs80358313
HLIrs80358313
Exacrs80358313
Varsomers80358313
Maprs80358313
PheGenIrs80358313
hapmaprs80358313
1000 genomesrs80358313
hgdprs80358313
ensemblrs80358313
gopubmedrs80358313
geneviewrs80358313
scholarrs80358313
googlers80358313
pharmgkbrs80358313
gwascentralrs80358313
openSNPrs80358313
23andMers80358313
23andMe allrs80358313
SNP Nexus

SNPshotrs80358313
SNPdbers80358313
MSV3drs80358313
GWAS Ctlgrs80358313
Max Magnitude0
OMIM603506
Desc
Variant0027
Relatedalso
ClinVar
Risk rs80358313(A,C,T;A,C,T)
Alt rs80358313(A,C,T;A,C,T)
Reference rs80358313(G;G)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4, autosomal recessive
Reversed 0
HGVS NC_000011.9:g.68174018G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006674.3,


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