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rs9594738

From SNPedia

Orientationplus
Stabilizedplus
Make rs9594738(C;C)
Make rs9594738(C;T)
Make rs9594738(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position42378009
is asnp
is mentioned by
dbSNPrs9594738
ebirs9594738
HLIrs9594738
Exacrs9594738
Varsomers9594738
Maprs9594738
PheGenIrs9594738
hapmaprs9594738
1000 genomesrs9594738
hgdprs9594738
ensemblrs9594738
gopubmedrs9594738
geneviewrs9594738
scholarrs9594738
googlers9594738
pharmgkbrs9594738
gwascentralrs9594738
openSNPrs9594738
23andMers9594738
23andMe allrs9594738
SNP Nexus

SNPshotrs9594738
SNPdbers9594738
MSV3drs9594738
GWAS Ctlgrs9594738
GMAF0.32
Max Magnitude
? (C;C) (C;T) (T;T) 28
Rs9594738
PubMed [PMID 18445777]
Affy Probeset SNP_A-1816202
Affy Orientation same
On GW 5.0
Alleles A/B C/T
Ancestral C
Population Caucasian
Allele T
Case Freq. 0.56
Control Freq.
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All -
Disease Bone mineral density, lower (BMD-L)


rs9594738 increases susceptibility to Bone mineral density variations, lower for carriers of the T allele [PMID 18445777]

GWAS
SNP rs9594738
PubMedID [PMID 18445777]
Condition Bone mineral density (hip)
Gene RANKL
Risk Allele T
pValue 2.00E-008
OR 0.1
95% CI 0.06-0.13) SD decreas


OMIM612110
DescBONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9
Variant
Relatedalso
[PMID 21124946OA-icon.png] Genome-Wide Association Meta-Analysis of Cortical Bone Mineral Density Unravels Allelic Heterogeneity at the RANKL Locus and Potential Pleiotropic Effects on Bone
GWAS snp
PMID [PMID 21533022OA-icon.png]
Trait
Title Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
Risk Allele T
P-val 0.000004
Odds Ratio 0.1500 [NR] unit increase


[PMID 21760914OA-icon.png] Pathway-based association analyses identified TRAIL pathway for osteoporotic fractures


[PMID 22022476OA-icon.png] Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation


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


[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.


GET Evidence
rs9594738
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.28125
summary



[PMID 23744843] Analyses of RANK and RANKL in the post-GWAS context: functional evidence of vitamin D stimulation through a RANKL distal region