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rs80358316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358316(A;G)
Make rs80358316(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68411509
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358316
ebirs80358316
HLIrs80358316
Exacrs80358316
Varsomers80358316
Maprs80358316
PheGenIrs80358316
hapmaprs80358316
1000 genomesrs80358316
hgdprs80358316
ensemblrs80358316
gopubmedrs80358316
geneviewrs80358316
scholarrs80358316
googlers80358316
pharmgkbrs80358316
gwascentralrs80358316
openSNPrs80358316
23andMers80358316
23andMe allrs80358316
SNP Nexus

SNPshotrs80358316
SNPdbers80358316
MSV3drs80358316
GWAS Ctlgrs80358316
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs80358316(G;G)
Alt rs80358316(G;G)
Reference rs80358316(A;A)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4
Reversed 0
HGVS NC_000011.9:g.68178977A>G
CLNSRC
CLNACC


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