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rs28939709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28939709(A;A)
Make rs28939709(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68436987
GeneLRP5
is asnp
is mentioned by
dbSNPrs28939709
ebirs28939709
HLIrs28939709
Exacrs28939709
Varsomers28939709
Maprs28939709
PheGenIrs28939709
hapmaprs28939709
1000 genomesrs28939709
hgdprs28939709
ensemblrs28939709
gopubmedrs28939709
geneviewrs28939709
scholarrs28939709
googlers28939709
pharmgkbrs28939709
gwascentralrs28939709
openSNPrs28939709
23andMers28939709
23andMe allrs28939709
SNP Nexus

SNPshotrs28939709
SNPdbers28939709
MSV3drs28939709
GWAS Ctlgrs28939709
Max Magnitude0
OMIM603506
DescEXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
Variant0024
Relatedalso
ClinVar
Risk rs28939709(A;A)
Alt rs28939709(A;A)
Reference rs28939709(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.68204455G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006671.2,


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