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rs80358310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358310(C;T)
Make rs80358310(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68403502
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358310
ebirs80358310
HLIrs80358310
Exacrs80358310
Varsomers80358310
Maprs80358310
PheGenIrs80358310
hapmaprs80358310
1000 genomesrs80358310
hgdprs80358310
ensemblrs80358310
gopubmedrs80358310
geneviewrs80358310
scholarrs80358310
googlers80358310
pharmgkbrs80358310
gwascentralrs80358310
openSNPrs80358310
23andMers80358310
23andMe allrs80358310
SNP Nexus

SNPshotrs80358310
SNPdbers80358310
MSV3drs80358310
GWAS Ctlgrs80358310
Max Magnitude0
ClinVar
Risk rs80358310(T;T)
Alt rs80358310(T;T)
Reference rs80358310(C;C)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4
Reversed 0
HGVS NC_000011.9:g.68170970C>T
CLNSRC
CLNACC


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