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rs7775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0
Make rs7775(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position182834857
GeneFRZB
is asnp
is mentioned by
dbSNPrs7775
ebirs7775
HLIrs7775
Exacrs7775
Varsomers7775
Maprs7775
PheGenIrs7775
hapmaprs7775
1000 genomesrs7775
hgdprs7775
ensemblrs7775
gopubmedrs7775
geneviewrs7775
scholarrs7775
googlers7775
pharmgkbrs7775
gwascentralrs7775
openSNPrs7775
23andMers7775
23andMe allrs7775
SNP Nexus

SNPshotrs7775
SNPdbers7775
MSV3drs7775
GWAS Ctlgrs7775
GMAF0.1134
Max Magnitude0
? (C;C) (C;G) (G;G) 28
rs7775 (R324G) osteoarthritis at multiple joints (p = 0.07), particularly in the hip in women [PMID 17237116OA-icon.png]

associated with osteoarthritis of the hip in females

This is an arg324-to-gly (R324G) substitution

[PMID 19479880OA-icon.png] Meta-analysis of 14 studies did not support a significant association between rs7775 and osteoarthritis.

OMIM605083
DescOSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO
Variant0001
Relatedalso


[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 rs7775(A,G,T;A,G,T)
Alt rs7775(A,G,T;A,G,T)
Reference rs7775(C;C)
Significance Other
Disease Osteoarthritis susceptibility 1
Variation info
Gene FRZB
CLNDBN Osteoarthritis susceptibility 1
Reversed 1
HGVS NC_000002.11:g.183699584G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005530.2,



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

[PMID 18787887OA-icon.png] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.

[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-R324G
aa_change Arg324Gly
aa_change_short R324G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.155419
summary



[PMID 23516639OA-icon.png] Association of single nucleotide polymorphisms in wnt signaling pathway genes with breast cancer in saudi patients