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rs9594759

From SNPedia

Orientationplus
Stabilizedplus
Make rs9594759(C;C)
Make rs9594759(C;T)
Make rs9594759(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position42458457
GeneLOC105370177
is asnp
is mentioned by
dbSNPrs9594759
dbSNP (classic)rs9594759
ClinGenrs9594759
ebirs9594759
HLIrs9594759
Exacrs9594759
Gnomadrs9594759
Varsomers9594759
LitVarrs9594759
Maprs9594759
PheGenIrs9594759
Biobankrs9594759
1000 genomesrs9594759
hgdprs9594759
ensemblrs9594759
geneviewrs9594759
scholarrs9594759
googlers9594759
pharmgkbrs9594759
gwascentralrs9594759
openSNPrs9594759
23andMers9594759
SNPshotrs9594759
SNPdbers9594759
MSV3drs9594759
GWAS Ctlgrs9594759
GMAF0.4229
Max Magnitude0
? (C;C) (C;T) (T;T) 28


rs9594759 increases susceptibility to Bone mineral density variations, lower for carriers of the T allele [PMID 18445777]

GWAS
SNP rs9594759
PubMedID [PMID 18445777]
Condition Bone mineral density (spine)
Gene RANKL
Risk Allele T
pValue 2.00E-021
OR 0.17
95% CI 0.14-0.21) SD decreas


GWAS snp
PMID [PMID 19079262]
Trait Bone mineral density (spine)
Title New sequence variants associated with bone mineral density
Risk Allele T
P-val 2E-17
Odds Ratio 0.12 [0.09-0.15] SD decrease
OMIM612110
DescBONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9
Variant
Relatedalso


[PMID 22370887OA-icon.png] Are bone mineral density loci associated with hip osteoporotic fractures? A validation study on previously reported genome-wide association loci in a Chinese population

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

[PMID 19629617OA-icon.png] Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening.

[PMID 20072603OA-icon.png] Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.

[PMID 20205168] Genetic variation in the RANKL/RANK/OPG signaling pathway is associated with bone turnover and bone mineral density in men.


[PMID 23072920OA-icon.png] Genetic markers of bone and joint health and physical capability in older adults: the HALCyon programme


[PMID 29528523] Multiple functional variants at 13q14 risk locus for osteoporosis regulate RANKL expression through long-range super-enhancer.