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rs288326

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs288326(A;A)
Make rs288326(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position182838608
GeneFRZB
is asnp
is mentioned by
dbSNPrs288326
ebirs288326
HLIrs288326
Exacrs288326
Varsomers288326
Maprs288326
PheGenIrs288326
hapmaprs288326
1000 genomesrs288326
hgdprs288326
ensemblrs288326
gopubmedrs288326
geneviewrs288326
scholarrs288326
googlers288326
pharmgkbrs288326
gwascentralrs288326
openSNPrs288326
23andMers288326
23andMe allrs288326
SNP Nexus

SNPshotrs288326
SNPdbers288326
MSV3drs288326
GWAS Ctlgrs288326
GMAF0.05464
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM605083
DescOSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO
Variant0002
Relatedalso
[PMID 19479880OA-icon.png] Meta-analysis of 14 studies did not support a significant association between rs288326 and osteoarthritis.


[PMID 22095095] Variant alleles of the WNT antagonist FRZB are determinants of hip shape and modify the relationship between hip shape and osteoarthritis


ClinVar
Risk rs288326(A;A)
Alt rs288326(A;A)
Reference rs288326(G;G)
Significance Other
Disease Osteoarthritis susceptibility 1
Variation info
Gene FRZB
CLNDBN Osteoarthritis susceptibility 1
Reversed 0
HGVS NC_000002.11:g.183703336G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005531.2,



[PMID 15210948OA-icon.png] Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females.

[PMID 17237116OA-icon.png] Further evidence of the role of frizzled-related protein gene polymorphisms in osteoarthritis.

[PMID 19961594OA-icon.png] Power of multifactor dimensionality reduction and penalized logistic regression for detecting gene-gene interaction in a case-control study.

[PMID 20043861OA-icon.png] No association of the polymorphisms of the frizzled-related protein gene with peak bone mineral density in Chinese nuclear families.

[PMID 22544526OA-icon.png] Variant alleles of the Wnt antagonist FRZB are determinants of hip shape and modify the relationship between hip shape and osteoarthritis.


GET Evidence
FRZB-R200W
aa_change Arg200Trp
aa_change_short R200W
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0858896
summary