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rs121908670

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908670(A;A)
Make rs121908670(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68363784
GeneLRP5
is asnp
is mentioned by
dbSNPrs121908670
dbSNP (classic)rs121908670
ClinGenrs121908670
ebirs121908670
HLIrs121908670
Exacrs121908670
Gnomadrs121908670
Varsomers121908670
LitVarrs121908670
Maprs121908670
PheGenIrs121908670
Biobankrs121908670
1000 genomesrs121908670
hgdprs121908670
ensemblrs121908670
geneviewrs121908670
scholarrs121908670
googlers121908670
pharmgkbrs121908670
gwascentralrs121908670
openSNPrs121908670
23andMers121908670
SNPshotrs121908670
SNPdbers121908670
MSV3drs121908670
GWAS Ctlgrs121908670
Max Magnitude0
OMIM603506
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121908670(A;A)
Alt rs121908670(A;A)
Reference Rs121908670(G;G)
Significance Pathogenic
Disease Worth disease Osteopetrosis autosomal dominant type 1 Van Buchem disease type 2 not provided
Variation info
Gene LRP5
CLNDBN Worth disease Osteopetrosis autosomal dominant type 1 Van Buchem disease type 2 not provided
Reversed 0
HGVS NC_000011.9:g.68131252G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006660.3, RCV000006661.3, RCV000186217.2, RCV000383760.1,