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rs80358311

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358311(A;A)
Make rs80358311(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68403546
GeneLRP5
is asnp
is mentioned by
dbSNPrs80358311
ebirs80358311
HLIrs80358311
Exacrs80358311
Varsomers80358311
Maprs80358311
PheGenIrs80358311
hapmaprs80358311
1000 genomesrs80358311
hgdprs80358311
ensemblrs80358311
gopubmedrs80358311
geneviewrs80358311
scholarrs80358311
googlers80358311
pharmgkbrs80358311
gwascentralrs80358311
openSNPrs80358311
23andMers80358311
23andMe allrs80358311
SNP Nexus

SNPshotrs80358311
SNPdbers80358311
MSV3drs80358311
GWAS Ctlgrs80358311
Max Magnitude0
ClinVar
Risk rs80358311(A;A)
Alt rs80358311(A;A)
Reference rs80358311(G;G)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4
Reversed 0
HGVS NC_000011.9:g.68171014G>A
CLNSRC
CLNACC


[PMID 16929062OA-icon.png] Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.