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rs80358318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358318(C;C)
Make rs80358318(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68426052
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358318
ebirs80358318
HLIrs80358318
Exacrs80358318
Varsomers80358318
Maprs80358318
PheGenIrs80358318
hapmaprs80358318
1000 genomesrs80358318
hgdprs80358318
ensemblrs80358318
gopubmedrs80358318
geneviewrs80358318
scholarrs80358318
googlers80358318
pharmgkbrs80358318
gwascentralrs80358318
openSNPrs80358318
23andMers80358318
23andMe allrs80358318
SNP Nexus

SNPshotrs80358318
SNPdbers80358318
MSV3drs80358318
GWAS Ctlgrs80358318
Max Magnitude0
ClinVar
Risk rs80358318(C;C)
Alt rs80358318(C;C)
Reference rs80358318(T;T)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4
Reversed 0
HGVS NC_000011.9:g.68193520T>C
CLNSRC
CLNACC


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