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rs6993813

From SNPedia

Orientationplus
Stabilizedplus
Make rs6993813(C;C)
Make rs6993813(C;T)
Make rs6993813(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position119039999
GeneCOLEC10
is asnp
is mentioned by
dbSNPrs6993813
ebirs6993813
HLIrs6993813
Exacrs6993813
Varsomers6993813
Maprs6993813
PheGenIrs6993813
hapmaprs6993813
1000 genomesrs6993813
hgdprs6993813
ensemblrs6993813
gopubmedrs6993813
geneviewrs6993813
scholarrs6993813
googlers6993813
pharmgkbrs6993813
gwascentralrs6993813
openSNPrs6993813
23andMers6993813
23andMe allrs6993813
SNP Nexus

SNPshotrs6993813
SNPdbers6993813
MSV3drs6993813
GWAS Ctlgrs6993813
GMAF0.3788
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs6993813 increases susceptibility to Bone mineral density variations, lower for carriers of the A allele [PMID 18445777]

rs6993813 increases susceptibility to Osteoporotic fractures for carriers of the A allele [PMID 18445777]

GWAS
SNP rs6993813
PubMedID [PMID 18445777]
Condition Bone mineral density (hip)
Gene OPG
Risk Allele C
pValue 3.00E-011
OR 0.09
95% CI 0.07-0.12) SD decreas


OMIM612113
DescBONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 10; BMND10
Variant
Relatedalso



[PMID 22079369] TNFRSF11B gene haplotype and its association with bone mineral density variations in postmenopausal Mexican-Mestizo women


[PMID 22824048] Opposite associations of osteoprotegerin and ZBTB40 polymorphisms with bone mineral density of the hip in postmenopausal Taiwanese women


[PMID 19181680OA-icon.png] Common variants in the region around Osterix are associated with bone mineral density and growth in childhood.


[PMID 20534768OA-icon.png] OPG and RANK polymorphisms are both associated with cortical bone mineral density: findings from a metaanalysis of the Avon longitudinal study of parents and children and gothenburg osteoporosis and obesity determinants cohorts.


[PMID 20554715] Analysis of recently identified osteoporosis susceptibility genes in Han Chinese women.


GET Evidence
rs6993813
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.585938
summary



[PMID 24130145] Polymorphism of LRP5, but not of TNFRSF11B, is associated with a decrease in bone mineral density in postmenopausal maya-mestizo women


[PMID 23531404] Association of genetic polymorphisms of RANK, RANKL and OPG with bone mineral density in Chinese peri- and postmenopausal women.


[PMID 25105978OA-icon.png] An Osteoprotegerin Gene Polymorphism Is Associated with an Increased Risk of Hip Fracture in Japanese Patients with Rheumatoid Arthritis: Results from the IORRA Observational Cohort Study