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rs7639618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 2 1.45x increased osteoarthritis risk
(T;T) 2 1.45x increased osteoarthritis risk
ReferenceGRCh38 38.1/141
Chromosome3
Position15174922
GeneCOL6A4P1
is asnp
is mentioned by
dbSNPrs7639618
ebirs7639618
HLIrs7639618
Exacrs7639618
Varsomers7639618
Maprs7639618
PheGenIrs7639618
hapmaprs7639618
1000 genomesrs7639618
hgdprs7639618
ensemblrs7639618
gopubmedrs7639618
geneviewrs7639618
scholarrs7639618
googlers7639618
pharmgkbrs7639618
gwascentralrs7639618
openSNPrs7639618
23andMers7639618
23andMe allrs7639618
SNP Nexus

SNPshotrs7639618
SNPdbers7639618
MSV3drs7639618
GWAS Ctlgrs7639618
GMAF0.2635
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs7639618 is one of several SNPs in the DVWA gene found to be associated with osteoarthritis based on a study of several Japanese patient populations. The allelic odds ratio is 1.45 (CI: 1.27-1.65, p = 2.2 x 10e-8) for the minor allele, which is the (T) allele (in dbSNP orientation). [PMID 18622395]

[PMID 19054821] Our results suggest that the effect that DVWA amino acid changes have on tubulin binding is unlikely to influence risk of OA in Caucasians.

[PMID 19181678] rs7639618 with knee osteoarthritis with an odds ratio (OR) of 1.29, 95% confidence interval (CI) of 1.15 -1.45 and P of 2.70x10(-5), but not for Europeans

OMIM612401
DescOSTEOARTHRITIS SUSCEPTIBILITY 6; OS6
Variant
Relatedalso


[PMID 19486942] The knee osteoarthritis susceptibility locus DVWA on chromosome 3p24.3 is the 5' part of the split COL6A4 gene


[PMID 20238217] Lack of evidence for association between DVWA gene polymorphisms and developmental dysplasia of the hip in Chinese Han population


[PMID 22083612] Association study of the candidate gene for knee osteoarthritis in Koreans.


[PMID 26550167OA-icon.png] The association between DVWA polymorphisms and osteoarthritis susceptibility: a genetic meta-analysis


[PMID 26886631] Single Nucleotide Polymorphisms and Osteoarthritis: An Overview and a Meta-Analysis.