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rs121908673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908673(C;T)
Make rs121908673(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68363818
GeneLRP5
is asnp
is mentioned by
dbSNPrs121908673
ebirs121908673
HLIrs121908673
Exacrs121908673
Varsomers121908673
Maprs121908673
PheGenIrs121908673
hapmaprs121908673
1000 genomesrs121908673
hgdprs121908673
ensemblrs121908673
gopubmedrs121908673
geneviewrs121908673
scholarrs121908673
googlers121908673
pharmgkbrs121908673
gwascentralrs121908673
openSNPrs121908673
23andMers121908673
23andMe allrs121908673
SNP Nexus

SNPshotrs121908673
SNPdbers121908673
MSV3drs121908673
GWAS Ctlgrs121908673
Max Magnitude0
OMIM603506
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908673(T;T)
Alt rs121908673(T;T)
Reference rs121908673(C;C)
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.68131286C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006665.3,