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rs80358317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80358317(A;G)
Make rs80358317(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68425226
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358317
ebirs80358317
HLIrs80358317
Exacrs80358317
Varsomers80358317
Maprs80358317
PheGenIrs80358317
hapmaprs80358317
1000 genomesrs80358317
hgdprs80358317
ensemblrs80358317
gopubmedrs80358317
geneviewrs80358317
scholarrs80358317
googlers80358317
pharmgkbrs80358317
gwascentralrs80358317
openSNPrs80358317
23andMers80358317
23andMe allrs80358317
SNP Nexus

SNPshotrs80358317
SNPdbers80358317
MSV3drs80358317
GWAS Ctlgrs80358317
GMAF0.003214
Max Magnitude0
ClinVar
Risk rs80358317(G;G)
Alt rs80358317(G;G)
Reference rs80358317(A;A)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4
Reversed 0
HGVS NC_000011.9:g.68192694A>G
CLNSRC
CLNACC


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