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rs121908669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908669(C;C)
Make rs121908669(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68357672
GeneLRP5
is asnp
is mentioned by
dbSNPrs121908669
dbSNP (classic)rs121908669
ClinGenrs121908669
ebirs121908669
HLIrs121908669
Exacrs121908669
Gnomadrs121908669
Varsomers121908669
LitVarrs121908669
Maprs121908669
PheGenIrs121908669
Biobankrs121908669
1000 genomesrs121908669
hgdprs121908669
ensemblrs121908669
geneviewrs121908669
scholarrs121908669
googlers121908669
pharmgkbrs121908669
gwascentralrs121908669
openSNPrs121908669
23andMers121908669
SNPshotrs121908669
SNPdbers121908669
MSV3drs121908669
GWAS Ctlgrs121908669
Max Magnitude0
OMIM603506
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908669(C;C)
Alt rs121908669(C;C)
Reference Rs121908669(G;G)
Significance Pathogenic
Disease Osteopetrosis autosomal dominant type 1
Variation info
Gene LRP5
CLNDBN Osteopetrosis autosomal dominant type 1
Reversed 0
HGVS NC_000011.9:g.68125140G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006659.2,