rs9594738

Orientation

plus

Stabilized

plus

Make rs9594738(C;C)

Make rs9594738(C;T)

Make rs9594738(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

42378009

is a	snp
is	mentioned by
dbSNP	rs9594738
dbSNP (classic)	rs9594738
ClinGen	rs9594738
ebi	rs9594738
HLI	rs9594738
Exac	rs9594738
Gnomad	rs9594738
Varsome	rs9594738
LitVar	rs9594738
Map	rs9594738
PheGenI	rs9594738
Biobank	rs9594738
1000 genomes	rs9594738
hgdp	rs9594738
ensembl	rs9594738
geneview	rs9594738
scholar	rs9594738
google	rs9594738
pharmgkb	rs9594738
gwascentral	rs9594738
openSNP	rs9594738
23andMe	rs9594738
SNPshot	rs9594738
SNPdbe	rs9594738
MSV3d	rs9594738
GWAS Ctlg	rs9594738

GMAF

0.32

Max Magnitude

0

?	(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

OMIM	612110
Desc	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9
Variant
Related	also

[PMID 21124946] 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 21533022]
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 21760914] Pathway-based association analyses identified TRAIL pathway for osteoporotic fractures

[PMID 22022476] Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation

[PMID 22370887] 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 19181680] Common variants in the region around Osterix are associated with bone mineral density and growth in childhood.

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

[PMID 20534768] 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 23744843] Analyses of RANK and RANKL in the post-GWAS context: functional evidence of vitamin D stimulation through a RANKL distal region

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