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rs80358312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358312(A;A)
Make rs80358312(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68403607
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358312
ebirs80358312
HLIrs80358312
Exacrs80358312
Varsomers80358312
Maprs80358312
PheGenIrs80358312
hapmaprs80358312
1000 genomesrs80358312
hgdprs80358312
ensemblrs80358312
gopubmedrs80358312
geneviewrs80358312
scholarrs80358312
googlers80358312
pharmgkbrs80358312
gwascentralrs80358312
openSNPrs80358312
23andMers80358312
23andMe allrs80358312
SNP Nexus

SNPshotrs80358312
SNPdbers80358312
MSV3drs80358312
GWAS Ctlgrs80358312
Max Magnitude0
OMIM603506
Desc
Variant0022
Relatedalso
ClinVar
Risk rs80358312(A;A)
Alt rs80358312(A;A)
Reference rs80358312(G;G)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4, autosomal recessive
Reversed 0
HGVS NC_000011.9:g.68171075G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006669.2,


[PMID 15346351OA-icon.png] Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.