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rs80358320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358320(G;G)
Make rs80358320(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68436969
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358320
dbSNP (classic)rs80358320
ClinGenrs80358320
ebirs80358320
HLIrs80358320
Exacrs80358320
Gnomadrs80358320
Varsomers80358320
LitVarrs80358320
Maprs80358320
PheGenIrs80358320
Biobankrs80358320
1000 genomesrs80358320
hgdprs80358320
ensemblrs80358320
geneviewrs80358320
scholarrs80358320
googlers80358320
pharmgkbrs80358320
gwascentralrs80358320
openSNPrs80358320
23andMers80358320
SNPshotrs80358320
SNPdbers80358320
MSV3drs80358320
GWAS Ctlgrs80358320
Max Magnitude0
ClinVar
Risk rs80358320(G;G)
Alt rs80358320(G;G)
Reference Rs80358320(T;T)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4
Reversed 0
HGVS NC_000011.9:g.68204437T>G
CLNSRC
CLNACC


[PMID 11719191] LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.