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rs397514665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514665(C;T)
Make rs397514665(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68363791
GeneLRP5
is asnp
is mentioned by
dbSNPrs397514665
dbSNP (classic)rs397514665
ClinGenrs397514665
ebirs397514665
HLIrs397514665
Exacrs397514665
Gnomadrs397514665
Varsomers397514665
LitVarrs397514665
Maprs397514665
PheGenIrs397514665
Biobankrs397514665
1000 genomesrs397514665
hgdprs397514665
ensemblrs397514665
geneviewrs397514665
scholarrs397514665
googlers397514665
pharmgkbrs397514665
gwascentralrs397514665
openSNPrs397514665
23andMers397514665
SNPshotrs397514665
SNPdbers397514665
MSV3drs397514665
GWAS Ctlgrs397514665
Max Magnitude0
ClinVar
Risk rs397514665(T;T)
Alt rs397514665(T;T)
Reference Rs397514665(C;C)
Significance Pathogenic
Disease Osteoporosis with pseudoglioma
Variation info
Gene LRP5
CLNDBN Osteoporosis with pseudoglioma
Reversed 0
HGVS NC_000011.9:g.68131259C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033259.4,