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rs80358314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80358314(G;G)
Make rs80358314(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68406572
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358314
ebirs80358314
HLIrs80358314
Exacrs80358314
Varsomers80358314
Maprs80358314
PheGenIrs80358314
hapmaprs80358314
1000 genomesrs80358314
hgdprs80358314
ensemblrs80358314
gopubmedrs80358314
geneviewrs80358314
scholarrs80358314
googlers80358314
pharmgkbrs80358314
gwascentralrs80358314
openSNPrs80358314
23andMers80358314
23andMe allrs80358314
SNP Nexus

SNPshotrs80358314
SNPdbers80358314
MSV3drs80358314
GWAS Ctlgrs80358314
Max Magnitude0
ClinVar
Risk rs80358314(G;G)
Alt rs80358314(G;G)
Reference rs80358314(T;T)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4
Reversed 0
HGVS NC_000011.9:g.68174040T>G
CLNSRC
CLNACC


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