Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908674(C;G)
Make rs121908674(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68410076
GeneLRP5
is asnp
is mentioned by
dbSNPrs121908674
dbSNP (classic)rs121908674
ClinGenrs121908674
ebirs121908674
HLIrs121908674
Exacrs121908674
Gnomadrs121908674
Varsomers121908674
LitVarrs121908674
Maprs121908674
PheGenIrs121908674
Biobankrs121908674
1000 genomesrs121908674
hgdprs121908674
ensemblrs121908674
geneviewrs121908674
scholarrs121908674
googlers121908674
pharmgkbrs121908674
gwascentralrs121908674
openSNPrs121908674
23andMers121908674
SNPshotrs121908674
SNPdbers121908674
MSV3drs121908674
GWAS Ctlgrs121908674
Merged fromRs28939708
Max Magnitude0
OMIM603506
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121908674(G;G)
Alt rs121908674(G;G)
Reference Rs121908674(C;C)
Significance Pathogenic
Disease Exudative vitreoretinopathy 4
Variation info
Gene LRP5
CLNDBN Exudative vitreoretinopathy 4, autosomal recessive
Reversed 0
HGVS NC_000011.9:g.68177544C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006670.2,